Counsyl
General information
Counsyl
180 Kimball Way
South San Francisco
California
United States - 94080
http://www.counsyl.com/
Organization ID: 320494
180 Kimball Way
South San Francisco
California
United States - 94080
http://www.counsyl.com/
Organization ID: 320494
Personnel
- Imran Haque
- Peter Kang
Phone: 1-800-COUNSYL
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20732
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC8 | 168 | Aug 5, 2019 |
ABCD1 | 2 | Aug 5, 2019 |
ACADM | 96 | Aug 5, 2019 |
ACADS | 71 | Aug 5, 2019 |
ACADVL | 183 | Aug 5, 2019 |
ADA | 46 | Aug 5, 2019 |
ADAMTS2 | 6 | Jul 10, 2018 |
AGA | 33 | Aug 5, 2019 |
AGA-DT | 7 | Jul 10, 2018 |
AGL | 127 | Aug 5, 2019 |
AGXT | 58 | Jul 10, 2018 |
AIRE | 66 | Aug 5, 2019 |
ALDH3A2 | 55 | Aug 5, 2019 |
ALDOB | 38 | Jul 10, 2018 |
ALG11 | 1 | Aug 5, 2019 |
ALG6 | 37 | Jul 10, 2018 |
ALMS1 | 688 | Aug 5, 2019 |
ALPL | 94 | Aug 5, 2019 |
AMT | 45 | Aug 5, 2019 |
AOPEP | 59 | Aug 5, 2019 |
APBB1 | 2 | Aug 5, 2019 |
APC | 310 | Jun 20, 2018 |
ARFRP1 | 2 | Jul 10, 2018 |
ARG1 | 32 | Aug 5, 2019 |
ARSA | 94 | Aug 5, 2019 |
ASL | 59 | Jul 10, 2018 |
ASNS | 1 | Nov 23, 2016 |
ASPA | 51 | Aug 5, 2019 |
ASS1 | 67 | Aug 5, 2019 |
ATM | 482 | Jul 10, 2018 |
ATP6V1B1 | 16 | Jul 10, 2018 |
ATP6V1B1-AS1 | 1 | Jul 10, 2018 |
ATP7B | 266 | Aug 5, 2019 |
AXDND1 | 22 | Aug 5, 2019 |
BARD1 | 60 | Jun 20, 2018 |
BBS1 | 58 | Aug 5, 2019 |
BBS10 | 83 | Aug 5, 2019 |
BBS12 | 55 | Aug 5, 2019 |
BBS2 | 61 | Aug 5, 2019 |
BCHE | 57 | Jul 10, 2018 |
BCKDHA | 40 | Aug 5, 2019 |
BCKDHB | 61 | Aug 5, 2019 |
BCS1L | 44 | Aug 5, 2019 |
BLM | 125 | Aug 5, 2019 |
BMPR1A | 36 | Jun 20, 2018 |
BRCA1 | 583 | Jun 20, 2018 |
BRCA2 | 927 | Jun 20, 2018 |
BRIP1 | 275 | Jun 20, 2018 |
BTD | 117 | Aug 5, 2019 |
C11orf65 | 177 | Jul 10, 2018 |
CAPN3 | 170 | Aug 5, 2019 |
CBS | 86 | Aug 5, 2019 |
CDH1 | 146 | Jun 20, 2018 |
CDK4 | 14 | Jun 20, 2018 |
CDKL5 | 11 | Aug 5, 2019 |
CDKN2A | 56 | Jun 20, 2018 |
CERKL | 3 | Jul 10, 2018 |
CFTR | 464 | Aug 5, 2019 |
CFTR-AS1 | 36 | Aug 5, 2019 |
CHEK2 | 165 | Jun 20, 2018 |
CHM | 2 | Nov 23, 2016 |
CHPT1 | 4 | Jul 10, 2018 |
CLN3 | 40 | Aug 5, 2019 |
CLN5 | 42 | Aug 5, 2019 |
CLN6 | 35 | Aug 5, 2019 |
CLN8 | 27 | Aug 5, 2019 |
CLN8-AS1 | 1 | Jul 10, 2018 |
CLRN1 | 32 | Jul 10, 2018 |
CLRN1-AS1 | 4 | Jul 10, 2018 |
CNGB3 | 42 | Jul 10, 2018 |
COL4A3 | 91 | Aug 5, 2019 |
COL4A4 | 104 | Aug 5, 2019 |
COL4A5 | 3 | Aug 5, 2019 |
CPS1 | 82 | Jul 10, 2018 |
CPT1A | 39 | Aug 5, 2019 |
CPT2 | 107 | Aug 5, 2019 |
CTNS | 58 | Aug 5, 2019 |
CTNS-AS1 | 25 | Jul 10, 2018 |
CTSK | 36 | Jul 10, 2018 |
CYBA | 1 | Jul 10, 2018 |
CYP11B1 | 53 | Aug 5, 2019 |
CYP21A2 | 8 | Mar 11, 2015 |
CYP27A1 | 57 | Aug 5, 2019 |
CZ1P-ASNS | 1 | Nov 23, 2016 |
DBT | 34 | Aug 5, 2019 |
DCTN5 | 1 | Jun 20, 2018 |
DHCR7 | 101 | Aug 5, 2019 |
DLD | 25 | Aug 5, 2019 |
DLG4 | 18 | Jul 10, 2018 |
DMD | 15 | Aug 5, 2019 |
DNAH5 | 48 | Jul 10, 2018 |
DNAI1 | 15 | Jul 10, 2018 |
DNAI2 | 7 | Jul 10, 2018 |
DPYD | 79 | Jul 10, 2018 |
DPYD-AS1 | 19 | Jul 10, 2018 |
DVL2 | 2 | Jul 10, 2018 |
DYSF | 177 | Aug 5, 2019 |
ELP1 | 72 | Aug 5, 2019 |
EPCAM | 2 | Jun 20, 2018 |
ERCC6 | 86 | Aug 5, 2019 |
ERCC8 | 36 | Aug 5, 2019 |
ERCC8-AS1 | 6 | Aug 5, 2019 |
EVC | 79 | Aug 5, 2019 |
EVC2 | 73 | Aug 5, 2019 |
EYS | 53 | Jul 10, 2018 |
F11 | 94 | Jul 10, 2018 |
F11-AS1 | 18 | Jul 10, 2018 |
F2 | 1 | Jun 22, 2017 |
FAH | 52 | Aug 5, 2019 |
FAM161A | 7 | Jul 10, 2018 |
FANCA | 192 | Aug 5, 2019 |
FANCC | 80 | Aug 5, 2019 |
FBXL3 | 27 | Aug 5, 2019 |
FKRP | 63 | Aug 5, 2019 |
FKTN | 33 | Aug 5, 2019 |
FKTN-AS1 | 1 | Jul 10, 2018 |
FNDC8 | 1 | Nov 23, 2016 |
G6PC1 | 45 | Aug 5, 2019 |
G6PD | 5 | Jun 22, 2017 |
GAA | 196 | Aug 5, 2019 |
GALC | 124 | Aug 5, 2019 |
GALE | 1 | Nov 23, 2016 |
GALK1 | 35 | Jul 10, 2018 |
GALT | 96 | Aug 5, 2019 |
GAREM2 | 40 | Aug 5, 2019 |
GATAD1 | 45 | Aug 5, 2019 |
GBA1 | 1 | Nov 23, 2016 |
GBE1 | 9 | Jul 10, 2018 |
GCDH | 99 | Aug 5, 2019 |
GFM2 | 3 | Jul 30, 2018 |
GJB1 | 1 | Mar 11, 2015 |
GJB2 | 137 | Aug 5, 2019 |
GJB6 | 1 | Nov 23, 2016 |
GLA | 3 | Aug 5, 2019 |
GLB1 | 103 | Aug 5, 2019 |
GLDC | 98 | Aug 5, 2019 |
GML | 9 | Aug 5, 2019 |
GNE | 84 | Aug 5, 2019 |
GNPTAB | 62 | Aug 5, 2019 |
GNPTG | 45 | Aug 5, 2019 |
GRHPR | 51 | Aug 5, 2019 |
HACL1 | 4 | Jul 10, 2018 |
HADHA | 69 | Aug 5, 2019 |
HBA1 | 2 | Jun 22, 2017 |
HBB | 41 | Aug 5, 2019 |
HEXA | 142 | Aug 5, 2019 |
HEXA-AS1 | 1 | Jul 10, 2018 |
HEXB | 60 | Aug 5, 2019 |
HGD | 46 | Jul 10, 2018 |
HGSNAT | 40 | Aug 5, 2019 |
HLCS | 34 | Aug 5, 2019 |
HMGCL | 31 | Aug 5, 2019 |
HNRNPH2 | 1 | Aug 5, 2019 |
HOGA1 | 27 | Jul 10, 2018 |
HPS3 | 3 | Jul 10, 2018 |
HSD17B4 | 61 | Aug 5, 2019 |
HYLS1 | 10 | Jul 10, 2018 |
IDS | 1 | Aug 5, 2019 |
IDUA | 150 | Aug 5, 2019 |
IL2RG | 1 | Aug 5, 2019 |
INSRR | 2 | Jul 10, 2018 |
ITGB4 | 4 | Jul 10, 2018 |
IVD | 46 | Aug 5, 2019 |
KCNJ11 | 35 | Aug 5, 2019 |
KIRREL2 | 6 | Jul 10, 2018 |
KLLN | 5 | Jun 20, 2018 |
LAMA2 | 177 | Aug 5, 2019 |
LAMA3 | 140 | Aug 5, 2019 |
LAMB3 | 76 | Aug 5, 2019 |
LAMC2 | 58 | Jul 10, 2018 |
LIPA | 29 | Jul 10, 2018 |
LOC105378311 | 4 | Jul 10, 2018 |
LOC106099062 | 30 | Aug 5, 2019 |
LOC106627981 | 1 | Nov 23, 2016 |
LOC106799833 | 38 | Aug 5, 2019 |
LOC107133510 | 41 | Aug 5, 2019 |
LOC107303340 | 16 | Jun 20, 2018 |
LOC107303343 | 6 | Jul 10, 2018 |
LOC107457585 | 1 | Jul 10, 2018 |
LOC107882126 | 1 | Jul 10, 2018 |
LOC110006319 | 12 | Aug 5, 2019 |
LOC110121471 | 2 | Jul 10, 2018 |
LOC110121502 | 2 | Nov 23, 2016 |
LOC110673972 | 2 | Jul 10, 2018 |
LOC111413029 | 1 | Jul 10, 2018 |
LOC111589215 | 9 | Jun 20, 2018 |
LOC111674463 | 11 | Jul 10, 2018 |
LOC111674472 | 44 | Aug 5, 2019 |
LOC111674475 | 16 | Aug 5, 2019 |
LOC111674477 | 15 | Aug 5, 2019 |
LOC112272621 | 1 | Jul 10, 2018 |
LOC112486223 | 9 | Aug 5, 2019 |
LOC113664106 | 6 | Aug 5, 2019 |
LOC117125594 | 11 | Jul 10, 2018 |
LOC122152296 | 13 | Aug 5, 2019 |
LOC122787137 | 1 | Jul 10, 2018 |
LOC123864065 | 1 | Jul 10, 2018 |
LOC123956210 | 14 | Aug 5, 2019 |
LOC125446261 | 1 | Jul 10, 2018 |
LOC126805948 | 3 | Jul 10, 2018 |
LOC126806252 | 41 | Jul 10, 2018 |
LOC126806373 | 1 | Jul 10, 2018 |
LOC126806961 | 5 | Aug 5, 2019 |
LOC126807318 | 1 | Jul 10, 2018 |
LOC126859690 | 15 | Jul 10, 2018 |
LOC126859784 | 1 | Jul 10, 2018 |
LOC126860438 | 7 | Jul 10, 2018 |
LOC126860933 | 3 | Aug 5, 2019 |
LOC126861244 | 3 | Jul 10, 2018 |
LOC126861615 | 8 | Aug 5, 2019 |
LOC126862097 | 2 | Nov 23, 2016 |
LOC126862115 | 4 | Jul 10, 2018 |
LOC126862264 | 7 | Aug 5, 2019 |
LOC126862571 | 79 | Jun 20, 2018 |
LOC126862707 | 5 | Jul 10, 2018 |
LOC126862860 | 10 | Jul 10, 2018 |
LOC129388857 | 3 | Jul 10, 2018 |
LOC129390683 | 2 | Nov 23, 2016 |
LOC129390903 | 3 | Jun 20, 2018 |
LOC129391064 | 2 | Jul 10, 2018 |
LOC129930245 | 1 | Nov 23, 2016 |
LOC129930446 | 11 | Aug 5, 2019 |
LOC129930561 | 20 | Aug 5, 2019 |
LOC129930998 | 1 | Nov 23, 2016 |
LOC129933707 | 4 | Jun 20, 2018 |
LOC129935609 | 4 | Jul 10, 2018 |
LOC129935730 | 3 | Jul 10, 2018 |
LOC129936056 | 1 | Jul 10, 2018 |
LOC129936244 | 7 | Jul 10, 2018 |
LOC129936434 | 1 | Jul 10, 2018 |
LOC129992144 | 2 | Jul 10, 2018 |
LOC129992585 | 5 | Jul 10, 2018 |
LOC129994460 | 1 | Jul 10, 2018 |
LOC129994569 | 4 | Jul 10, 2018 |
LOC129998796 | 10 | Aug 5, 2019 |
LOC130000316 | 4 | Jul 10, 2018 |
LOC130001603 | 6 | Jun 20, 2018 |
LOC130001683 | 11 | Jul 10, 2018 |
LOC130003374 | 1 | Jul 10, 2018 |
LOC130004273 | 2 | Jun 20, 2018 |
LOC130005193 | 7 | Jul 10, 2018 |
LOC130006142 | 1 | Jul 10, 2018 |
LOC130006700 | 1 | Jul 10, 2018 |
LOC130006765 | 3 | Aug 5, 2019 |
LOC130008148 | 2 | Jun 20, 2018 |
LOC130009266 | 5 | Jun 20, 2018 |
LOC130009366 | 2 | Jul 10, 2018 |
LOC130009838 | 3 | Jul 10, 2018 |
LOC130009913 | 8 | Aug 5, 2019 |
LOC130056217 | 11 | Aug 5, 2019 |
LOC130056921 | 2 | Jul 10, 2018 |
LOC130057891 | 6 | Jul 10, 2018 |
LOC130058158 | 8 | Jul 10, 2018 |
LOC130059290 | 1 | Jun 20, 2018 |
LOC130059837 | 6 | Jul 10, 2018 |
LOC130060113 | 7 | Jul 10, 2018 |
LOC130060715 | 2 | Jun 20, 2018 |
LOC130060903 | 17 | Jul 10, 2018 |
LOC130061271 | 5 | Jul 10, 2018 |
LOC130061310 | 4 | Nov 23, 2016 |
LOC130061900 | 3 | Aug 5, 2019 |
LOC130062899 | 10 | Jun 20, 2018 |
LOC130063376 | 1 | Nov 23, 2016 |
LOC130063648 | 1 | Nov 23, 2016 |
LOC130063650 | 9 | Jul 10, 2018 |
LOC130064709 | 4 | Jul 10, 2018 |
LOC130066813 | 2 | Nov 23, 2016 |
LOC130066814 | 1 | Jul 10, 2018 |
LOC130067862 | 5 | Jul 10, 2018 |
LOC130067864 | 1 | Jul 10, 2018 |
LOC132089454 | 3 | Jul 10, 2018 |
LOC132090445 | 1 | Jul 10, 2018 |
LOC132090450 | 2 | Jul 10, 2018 |
LOXHD1 | 41 | Jul 10, 2018 |
LRPPRC | 67 | Jul 10, 2018 |
MAN2B1 | 72 | Jul 10, 2018 |
MCOLN1 | 28 | Aug 5, 2019 |
MCS+9.7 | 2 | Nov 23, 2016 |
MED23 | 31 | Aug 5, 2019 |
MEFV | 10 | Aug 5, 2019 |
MEN1 | 19 | Jun 20, 2018 |
MESP2 | 34 | Jul 10, 2018 |
MFF-DT | 88 | Aug 5, 2019 |
MIR3936HG | 4 | Jul 10, 2018 |
MIR4260 | 1 | Nov 23, 2016 |
MKS1 | 58 | Aug 5, 2019 |
MLC1 | 43 | Jul 10, 2018 |
MLH1 | 163 | Jun 20, 2018 |
MMAA | 31 | Aug 5, 2019 |
MMAB | 26 | Aug 5, 2019 |
MMACHC | 74 | Aug 5, 2019 |
MMUT | 94 | Aug 5, 2019 |
MPI | 32 | Aug 5, 2019 |
MPL | 14 | Jul 10, 2018 |
MPZ | 1 | Jun 20, 2018 |
MRE11 | 27 | Jun 20, 2018 |
MSH2 | 213 | Jun 20, 2018 |
MSH6 | 283 | Jun 20, 2018 |
MTTP | 3 | Jul 10, 2018 |
MUTYH | 131 | Jul 10, 2018 |
MVK | 4 | Jul 10, 2018 |
MYO7A | 252 | Aug 5, 2019 |
NAGLU | 89 | Aug 5, 2019 |
NBN | 115 | Jul 10, 2018 |
NDUFAF2 | 4 | Jul 10, 2018 |
NDUFS4 | 1 | Jul 10, 2018 |
NEB | 351 | Aug 5, 2019 |
NICN1 | 6 | Jul 10, 2018 |
NPC1 | 161 | Aug 5, 2019 |
NPC2 | 13 | Aug 5, 2019 |
NPHS1 | 112 | Aug 5, 2019 |
NPHS2 | 60 | Aug 5, 2019 |
NR2E3 | 32 | Jul 10, 2018 |
NTRK1 | 7 | Jul 10, 2018 |
OAT | 3 | Jul 10, 2018 |
OPA3 | 35 | Jul 30, 2018 |
OSBPL8 | 1 | Jul 10, 2018 |
OSGIN2 | 3 | Jul 10, 2018 |
OTC | 1 | Nov 23, 2016 |
PAH | 230 | Aug 5, 2019 |
PALB2 | 239 | Jun 20, 2018 |
PC | 23 | Aug 5, 2019 |
PCCA | 51 | Aug 5, 2019 |
PCCB | 73 | Aug 5, 2019 |
PCDH15 | 272 | Jul 30, 2018 |
PEX1 | 165 | Aug 5, 2019 |
PEX10 | 45 | Aug 5, 2019 |
PEX12 | 49 | Aug 5, 2019 |
PEX2 | 17 | Aug 5, 2019 |
PEX6 | 52 | Aug 5, 2019 |
PEX7 | 42 | Aug 5, 2019 |
PFKM | 2 | Jul 10, 2018 |
PGBD3 | 7 | Jul 10, 2018 |
PHF3 | 13 | Jul 10, 2018 |
PHGDH | 2 | Jul 10, 2018 |
PHYH | 6 | Jul 10, 2018 |
PKHD1 | 303 | Aug 5, 2019 |
PLCH2 | 4 | Aug 5, 2019 |
PMM2 | 65 | Aug 5, 2019 |
PMS2 | 137 | Jun 20, 2018 |
POLD1 | 99 | Jun 20, 2018 |
POLE | 151 | Jun 20, 2018 |
POMGNT1 | 91 | Aug 5, 2019 |
POMT1 | 1 | Aug 5, 2019 |
PPT1 | 47 | Aug 5, 2019 |
PROP1 | 29 | Jul 10, 2018 |
PTEN | 54 | Jun 20, 2018 |
PTS | 41 | Aug 5, 2019 |
PUS3 | 10 | Jul 10, 2018 |
PYGM | 71 | Jul 10, 2018 |
RAD50 | 43 | Jun 20, 2018 |
RAD51C | 97 | Jun 20, 2018 |
RAD51D | 73 | Jun 20, 2018 |
RAD51L3-RFFL | 73 | Jun 20, 2018 |
RAG2 | 3 | Jul 10, 2018 |
RAPSN | 3 | Jul 10, 2018 |
RET | 215 | Jun 20, 2018 |
RIF1 | 139 | Aug 5, 2019 |
RMRP | 126 | Aug 5, 2019 |
RPE65 | 15 | Jul 10, 2018 |
RPL36A-HNRNPH2 | 3 | Aug 5, 2019 |
RS1 | 11 | Aug 5, 2019 |
RTEL1 | 97 | Aug 5, 2019 |
RTEL1-TNFRSF6B | 97 | Aug 5, 2019 |
SACS | 276 | Aug 5, 2019 |
SAMD9 | 9 | Jul 10, 2018 |
SCO2 | 6 | Jul 10, 2018 |
SDHA | 59 | Jun 20, 2018 |
SDHB | 14 | Jun 20, 2018 |
SDHC | 9 | Jun 20, 2018 |
SERPINA1 | 27 | Jul 10, 2018 |
SGCA | 49 | Aug 5, 2019 |
SGCB | 30 | Aug 5, 2019 |
SGCD | 43 | Jul 10, 2018 |
SGCG | 21 | Aug 5, 2019 |
SGSH | 62 | Aug 5, 2019 |
SLC12A6 | 42 | Jul 10, 2018 |
SLC17A5 | 46 | Aug 5, 2019 |
SLC22A5 | 89 | Aug 5, 2019 |
SLC26A1 | 51 | Jul 30, 2018 |
SLC26A11 | 3 | Aug 5, 2019 |
SLC26A2 | 133 | Aug 5, 2019 |
SLC26A4 | 200 | Aug 5, 2019 |
SLC26A4-AS1 | 16 | Aug 5, 2019 |
SLC37A4 | 344 | Aug 5, 2019 |
SMAD4 | 33 | Jun 20, 2018 |
SMN1 | 1 | Jun 20, 2017 |
SMPD1 | 113 | Aug 5, 2019 |
SPATA22 | 51 | Aug 5, 2019 |
STAR | 28 | Jul 10, 2018 |
STK11 | 118 | Jun 20, 2018 |
SUMF1 | 5 | Jul 10, 2018 |
SYCE2 | 10 | Jul 10, 2018 |
TAT | 22 | Aug 5, 2019 |
TAT-AS1 | 13 | Jul 10, 2018 |
TCIRG1 | 68 | Aug 5, 2019 |
TECPR2 | 4 | Jul 10, 2018 |
TEX12 | 1 | Jul 10, 2018 |
TGM1 | 76 | Aug 5, 2019 |
TH | 60 | Aug 5, 2019 |
TH2-LCR | 1 | Jun 22, 2017 |
TH2LCRR | 4 | Jun 20, 2018 |
TMEM216 | 26 | Jul 10, 2018 |
TMEM43 | 1 | Jul 10, 2018 |
TMPPE | 1 | Jul 10, 2018 |
TNFRSF6B | 21 | Jul 10, 2018 |
TOE1 | 3 | Jul 10, 2018 |
TP53 | 100 | Jun 20, 2018 |
TPP1 | 53 | Aug 5, 2019 |
TRMU | 5 | Jul 10, 2018 |
TRPV1 | 1 | Mar 11, 2015 |
TSPAN1 | 84 | Aug 5, 2019 |
TSPAN31 | 4 | Jun 20, 2018 |
TTPA | 21 | Jul 10, 2018 |
TYMP | 8 | Jul 10, 2018 |
USH1C | 113 | Aug 5, 2019 |
USH2A | 504 | Aug 5, 2019 |
USH2A-AS1 | 39 | Aug 5, 2019 |
USH2A-AS2 | 25 | Aug 5, 2019 |
VHL | 42 | Jun 20, 2018 |
VPS13A | 5 | Jul 10, 2018 |
VPS13B | 293 | Aug 5, 2019 |
VPS53 | 3 | Jul 10, 2018 |
VRK1 | 1 | Jul 10, 2018 |
VSX2 | 1 | Jul 10, 2018 |
XPA | 60 | Jul 10, 2018 |
XPC | 86 | Aug 5, 2019 |
ZDHHC24 | 34 | Aug 5, 2019 |
ZFYVE26 | 62 | Aug 5, 2019 |
ZMYND11 | 1 | Nov 23, 2016 |
ZNF276 | 35 | Jul 10, 2018 |