Claritas Genomics
General information
Claritas Genomics
99 Erie St
Cambridge
Massachusetts
United States - 02139
http://www.claritasgenomics.com/
Organization ID: 1179
99 Erie St
Cambridge
Massachusetts
United States - 02139
http://www.claritasgenomics.com/
Organization ID: 1179
Personnel
- Hayk Hovhannisyan, Lab Associate Director
Phone: 617-553-5830
Email: [email protected] - David Miller
Phone: 617-553-5880
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 130
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACSF3 | 1 | Feb 22, 2017 |
| ARFGEF1-DT | 1 | Feb 22, 2017 |
| BTD | 1 | Feb 22, 2017 |
| CHRNG | 1 | Feb 22, 2017 |
| CPA6 | 2 | Feb 22, 2017 |
| DDHD2 | 1 | Feb 22, 2017 |
| DYSF | 1 | Feb 22, 2017 |
| ERCC6 | 40 | Apr 13, 2015 |
| ERCC8 | 3 | Apr 13, 2015 |
| ERCC8-AS1 | 1 | Apr 13, 2015 |
| FLNA | 45 | Apr 13, 2015 |
| GAA | 1 | Feb 22, 2017 |
| GLDC | 1 | Feb 22, 2017 |
| GMPPB | 1 | Feb 22, 2017 |
| GRIN2A | 1 | Feb 22, 2017 |
| HERC2 | 1 | Feb 22, 2017 |
| KIFBP | 1 | Feb 22, 2017 |
| LMNA | 1 | Feb 22, 2017 |
| LOC105369149 | 1 | Feb 22, 2017 |
| LOC107988032 | 2 | Apr 13, 2015 |
| LOC126860933 | 2 | Apr 13, 2015 |
| LOC129936244 | 1 | Apr 13, 2015 |
| MAF | 1 | Feb 22, 2017 |
| MKS1 | 1 | Feb 22, 2017 |
| MYBPC3 | 1 | Feb 22, 2017 |
| NEB | 2 | Feb 22, 2017 |
| PCNT | 1 | Feb 22, 2017 |
| PGBD3 | 3 | Apr 13, 2015 |
| PHKA1 | 1 | Feb 22, 2017 |
| PNPLA6 | 1 | Feb 22, 2017 |
| POLG | 1 | Feb 22, 2017 |
| POLGARF | 1 | Feb 22, 2017 |
| PRX | 1 | Feb 22, 2017 |
| RIF1 | 1 | Feb 22, 2017 |
| RNASEH2B | 1 | Feb 22, 2017 |
| SBF2 | 1 | Feb 22, 2017 |
| SBF2-AS1 | 1 | Feb 22, 2017 |
| SPTAN1 | 1 | Feb 22, 2017 |
| SUCLA2 | 1 | Feb 22, 2017 |
| SYNGAP1 | 1 | Feb 22, 2017 |
| SYNGAP1-AS1 | 1 | Feb 22, 2017 |
| SZT2 | 1 | Feb 22, 2017 |
| SZT2-AS1 | 1 | Feb 22, 2017 |
| TMEM43 | 1 | Apr 13, 2015 |
| UNC80 | 1 | Feb 22, 2017 |
| WWOX | 1 | Feb 22, 2017 |
| XPA | 2 | Apr 13, 2015 |
| XPC | 9 | Apr 13, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cockayne syndrome type 1 | 1 | Apr 13, 2015 |
| Cockayne syndrome type 2 | 21 | Apr 13, 2015 |
| Frontometaphyseal dysplasia 1 | 1 | Apr 13, 2015 |
| Generalized epilepsy | 4 | Feb 22, 2017 |
| Global developmental delay | 17 | Feb 22, 2017 |
| Glycogen storage disease, type II | 1 | Feb 22, 2017 |
| Heterotopia, periventricular, X-linked dominant | 29 | Apr 13, 2015 |
| Melnick-Needles syndrome | 1 | Apr 13, 2015 |
| Obesity | 4 | Feb 22, 2017 |
| Oto-palato-digital syndrome, type I | 1 | Apr 13, 2015 |
| Peripheral neuropathy | 13 | Feb 22, 2017 |
| Xeroderma pigmentosum group A | 1 | Apr 13, 2015 |
| Xeroderma pigmentosum, group C | 5 | Apr 13, 2015 |
| not specified | 39 | Apr 13, 2015 |