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Human Genome Sequencing Center Clinical Lab (Baylor College of Medicine), HGSC-CL

General information

Human Genome Sequencing Center Clinical Lab, HGSC-CL
Baylor College of Medicine
One Baylor Plaza
Room R830
Houston
Texas
United States - 77030
http://hgsc.bcm.edu/
Organization ID: 500199

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 721

Gene

GeneSubmissionsLast Updated
ABCA11Jul 14, 2021
ACTA21Apr 23, 2020
ACTA2-AS11Apr 23, 2020
AHDC127Feb 15, 2021
ALK1Sep 6, 2020
APC4May 6, 2024
APOB9May 6, 2024
ATM22Apr 23, 2020
ATP1A21Apr 23, 2020
BMPR1A1Apr 23, 2020
BRCA148May 6, 2024
BRCA267May 6, 2024
C11orf6510Apr 23, 2020
CACNA1A3Apr 23, 2020
CACNA1S3May 6, 2024
CBL2Sep 6, 2020
CCDST1Jun 14, 2018
CHEK216May 6, 2024
COL3A17May 6, 2024
COL5A17Apr 23, 2020
CYP21A21May 6, 2024
DCTN51Jun 14, 2018
DICER12Sep 6, 2020
DSC25Apr 23, 2020
DSG28Jul 14, 2021
DSG2-AS14Jul 14, 2021
DSP14May 6, 2024
DSP-AS11Apr 23, 2020
ELN1Jul 14, 2021
F112Apr 23, 2020
F51Jun 14, 2018
FBN112Jul 14, 2021
FLG1Jun 14, 2018
GLA2Jul 14, 2021
HFE1Jun 14, 2018
HNF1A3Apr 23, 2020
HNF1B2Apr 23, 2020
HRAS2Sep 6, 2020
INSL61Jun 14, 2018
JAK21Jun 14, 2018
KCNE15May 6, 2024
KCNE21Jun 14, 2018
KCNH210May 6, 2024
KCNJ22Apr 23, 2020
KCNQ118May 6, 2024
KCNQ1-AS12Apr 23, 2020
KIF1A1Apr 27, 2020
LDLR89May 6, 2024
LDLR-AS11Apr 23, 2020
LMNA4May 6, 2024
LOC1053727911Jun 14, 2018
LOC1067808001May 6, 2024
LOC1073033403May 6, 2024
LOC1079822341Apr 23, 2020
LOC1139399441Apr 23, 2020
LOC1268058771Apr 23, 2020
LOC1268060681Apr 23, 2020
LOC1268618971Apr 23, 2020
LOC1268618982Jun 14, 2018
LOC1268624821May 8, 2020
LOC12686257110May 6, 2024
LOC1300628991Apr 23, 2020
LPL3Jul 14, 2021
LRRC562Sep 6, 2020
MC4R3Jun 14, 2018
MED13L1Dec 10, 2019
MEFV1Jun 14, 2018
MEN12Apr 23, 2020
MHRT1Apr 23, 2020
MLH112May 6, 2024
MSH27May 6, 2024
MSH614May 6, 2024
MUTYH4May 6, 2024
MYBPC315May 6, 2024
MYH115Apr 23, 2020
MYH717May 6, 2024
MYL31Jun 14, 2018
MYLK3May 6, 2024
NDE12Apr 23, 2020
NEXN1Jul 14, 2021
NF19Sep 6, 2020
OTC1Jun 14, 2018
PALB217Apr 23, 2020
PCSK94Apr 23, 2020
PKP214May 6, 2024
PMS220May 6, 2024
POLE1Apr 23, 2020
POLR2A11May 8, 2020
PRKAR1A1Jul 14, 2021
PTCH11Sep 6, 2020
PTEN7May 6, 2024
RET6May 6, 2024
RPL36A-HNRNPH22Jul 14, 2021
RYR133May 6, 2024
RYR26Apr 23, 2020
SCN5A12May 6, 2024
SDHA4Jul 14, 2021
SDHB3May 6, 2024
SDHC6May 6, 2024
SDHD1May 6, 2024
SERPINA11Jun 14, 2018
SMAD31Jun 14, 2018
SMAD41Jun 14, 2018
STK112Apr 23, 2020
TGFB21Jul 14, 2021
TGFBR23Apr 23, 2020
TMEM432Apr 23, 2020
TNNI36May 6, 2024
TNNT25Apr 23, 2020
TOR1A1Apr 23, 2020
TP5319May 6, 2024
TPM11Apr 23, 2020
TSC12Apr 23, 2020
TSC29May 6, 2024
TTN3Jul 14, 2021
TTN-AS13Jul 14, 2021
TUSC31Dec 6, 2019
UMOD3Apr 23, 2020
VHL3May 6, 2024
WT12Apr 23, 2020

Condition

NameSubmissionsLast Updated
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome27Feb 15, 2021
Acquired polycythemia vera1Jun 14, 2018
Alpha-1-antitrypsin deficiency1Jun 14, 2018
Alternating hemiplegia of childhood1Apr 23, 2020
Andersen Tawil syndrome2Apr 23, 2020
Aneurysm-osteoarthritis syndrome1Jun 14, 2018
Aortic aneurysm, familial thoracic 45Apr 23, 2020
Aortic aneurysm, familial thoracic 61Apr 23, 2020
Aortic aneurysm, familial thoracic 73May 6, 2024
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1May 6, 2024
Arrhythmogenic right ventricular dysplasia 109Jul 14, 2021
Arrhythmogenic right ventricular dysplasia 115Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 52Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 813May 6, 2024
Arrhythmogenic right ventricular dysplasia 914May 6, 2024
Ataxia-telangiectasia syndrome14Apr 23, 2020
Breast cancer, susceptibility to26Apr 23, 2020
Breast-ovarian cancer, familial, susceptibility to, 139Apr 23, 2020
Breast-ovarian cancer, familial, susceptibility to, 250Apr 23, 2020
Brugada syndrome1May 6, 2024
Brugada syndrome 16Apr 23, 2020
Catecholaminergic polymorphic ventricular tachycardia 16Apr 23, 2020
Colorectal cancer susceptibility 121Apr 23, 2020
Colorectal cancer, hereditary nonpolyposis, type 211Apr 23, 2020
Congenital adrenal hyperplasia1May 6, 2024
Congenital multicore myopathy with external ophthalmoplegia9May 6, 2024
Cowden syndrome 12Jun 14, 2018
Dilated cardiomyopathy 1A3Apr 23, 2020
Dilated cardiomyopathy 1CC1Jul 14, 2021
Dilated cardiomyopathy 1D5Apr 23, 2020
Dilated cardiomyopathy 1G3Jul 14, 2021
Early-onset generalized limb-onset dystonia1Apr 23, 2020
Ehlers-Danlos syndrome, classic type, 17Apr 23, 2020
Ehlers-Danlos syndrome, type 47May 6, 2024
Episodic ataxia type 23Apr 23, 2020
Fabry disease2Jul 14, 2021
Factor V deficiency1Jun 14, 2018
Factor XI1Apr 23, 2020
Familial Mediterranean fever1Jun 14, 2018
Familial adenomatous polyposis 13Apr 23, 2020
Familial adenomatous polyposis 24May 6, 2024
Familial cancer of breast28Jun 14, 2018
Familial hypercholesterolemia54May 6, 2024
Familial juvenile hyperuricemic nephropathy type 13Apr 23, 2020
Familial multiple polyposis syndrome1May 6, 2024
Generalized juvenile polyposis/juvenile polyposis coli2Apr 23, 2020
Hemochromatosis type 11Jun 14, 2018
Hereditary breast ovarian cancer syndrome20May 6, 2024
Hereditary factor XI deficiency disease1Jun 14, 2018
Hypercholesterolemia, autosomal dominant, 34Apr 23, 2020
Hypercholesterolemia, autosomal dominant, type B2Jul 14, 2021
Hypercholesterolemia, familial, 142Jul 14, 2021
Hyperlipidemia, familial combined, LPL related3Jul 14, 2021
Hypertrophic cardiomyopathy10May 6, 2024
Hypertrophic cardiomyopathy 113Jul 14, 2021
Hypertrophic cardiomyopathy 23Apr 23, 2020
Hypertrophic cardiomyopathy 31Apr 23, 2020
Hypertrophic cardiomyopathy 411Jul 14, 2021
Hypertrophic cardiomyopathy 74Jul 14, 2021
Hypertrophic cardiomyopathy 81Jun 14, 2018
Hypoalphalipoproteinemia, primary, 11Jul 14, 2021
Ichthyosis vulgaris1Jun 14, 2018
Intellectual disability3Dec 10, 2019
Intellectual disability, autosomal dominant 91Apr 27, 2020
Jervell and Lange-Nielsen syndrome 17Apr 23, 2020
Jervell and Lange-Nielsen syndrome 21Apr 23, 2020
Li-Fraumeni syndrome6May 6, 2024
Li-Fraumeni syndrome 12Jun 14, 2018
Loeys-Dietz syndrome 23Apr 23, 2020
Loeys-Dietz syndrome 41Jul 14, 2021
Long QT syndrome7May 6, 2024
Long QT syndrome 114Apr 23, 2020
Long QT syndrome 28Jul 14, 2021
Long QT syndrome 311Apr 23, 2020
Long QT syndrome 54Apr 23, 2020
Long QT syndrome 61Jun 14, 2018
Lynch syndrome13May 6, 2024
Lynch syndrome 14Apr 23, 2020
Lynch syndrome 413Apr 23, 2020
Lynch syndrome 59Apr 23, 2020
Malignant hyperthermia, susceptibility to3May 6, 2024
Malignant hyperthermia, susceptibility to, 122Apr 23, 2020
Malignant hyperthermia, susceptibility to, 52Apr 23, 2020
Marfan syndrome12Jul 14, 2021
Maturity-onset diabetes of the young type 33Apr 23, 2020
Migraine, familial hemiplegic, 21Apr 23, 2020
Multiple endocrine neoplasia type 2A5Apr 23, 2020
Multiple endocrine neoplasia type 2B1Apr 23, 2020
Multiple endocrine neoplasia, type 12Apr 23, 2020
Multiple endocrine neoplasia, type 21May 6, 2024
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities10May 8, 2020
Obesity3Jun 14, 2018
Ornithine carbamoyltransferase deficiency1Jun 14, 2018
PTEN hamartoma tumor syndrome1May 6, 2024
PTEN hamartoma tumor syndromes3Apr 23, 2020
Pancreatic cancer, susceptibility to, 37Apr 23, 2020
Paragangliomas 11May 6, 2024
Paragangliomas 35May 6, 2024
Paragangliomas 43May 6, 2024
Paragangliomas 52Jul 14, 2021
Peutz-Jeghers syndrome2Apr 23, 2020
Primary dilated cardiomyopathy1May 6, 2024
Prostate cancer susceptibility5Apr 23, 2020
Renal cysts and diabetes syndrome2Apr 23, 2020
Rhabdomyosarcoma42Sep 6, 2020
Supravalvar aortic stenosis1Jul 14, 2021
Tuberous sclerosis 12Apr 23, 2020
Tuberous sclerosis 28Apr 23, 2020
Tuberous sclerosis syndrome1May 6, 2024
Von Hippel-Lindau syndrome3May 6, 2024
Wilms tumor 12Apr 23, 2020
not specified1May 8, 2020