ClinGen Hearing Loss Variant Curation Expert Panel, HL-EP
FDA Recognized Database
General information
ClinGen Hearing Loss Variant Curation Expert Panel, HL-EP
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/hereditary-hearing-loss-clinical-domain-working-group/hereditary-hearing-loss-variant-curation-expert-panel/
Organization ID: 506744
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/hereditary-hearing-loss-clinical-domain-working-group/hereditary-hearing-loss-variant-curation-expert-panel/
Organization ID: 506744
Personnel
- Marina Distefano, Coordinator
Phone: 617-768-8500
Email: mdistefano1@bwh.harvard.edu - Marina DiStefano, Coordinator
Phone: 617-768-8500
Email: mdistefa@broadinstitute.org - Andrea Oza, Genetic Counselor
Phone: 617-768-8500
Email: amoza@partners.org - Mayher Patel, Coordinator
Phone: 617-768-8500
Email: mayher@broadinstitute.org
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 158
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| C10orf105 | 2 | May 26, 2020 |
| CDH23 | 16 | Nov 5, 2021 |
| CDH23-AS1 | 2 | Feb 7, 2020 |
| COCH | 5 | Jul 18, 2019 |
| GJB2 | 22 | Aug 11, 2020 |
| KCNQ4 | 4 | Feb 7, 2020 |
| LOC100506071 | 5 | Jul 18, 2019 |
| LOC122152296 | 1 | Nov 5, 2021 |
| MYO6 | 4 | Jul 18, 2019 |
| MYO7A | 27 | Nov 5, 2021 |
| PRDM16 | 1 | Nov 1, 2019 |
| SLC26A4 | 25 | Oct 20, 2020 |
| SLC26A4-AS1 | 2 | Nov 1, 2019 |
| TBCEL-TECTA | 10 | Feb 7, 2020 |
| TECTA | 10 | Feb 7, 2020 |
| USH2A | 45 | Nov 5, 2021 |
| USH2A-AS1 | 3 | Feb 7, 2020 |
| USH2A-AS2 | 5 | May 26, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Nonsyndromic hearing loss and deafness | 56 | Nov 5, 2021 |
| Pendred syndrome | 25 | Oct 20, 2020 |
| Sensorineural hearing loss disorder | 1 | Nov 1, 2019 |
| Usher syndrome | 75 | Nov 5, 2021 |
| not specified | 1 | Feb 27, 2019 |