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: 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: 209
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| C10orf105 | 2 | Sep 23, 2025 |
| CDH23 | 19 | Dec 19, 2025 |
| CDH23-AS1 | 2 | Jun 30, 2023 |
| COCH | 6 | Sep 23, 2025 |
| COCH-AS1 | 6 | Sep 23, 2025 |
| GJB2 | 30 | Sep 23, 2025 |
| KCNQ4 | 4 | Jul 2, 2024 |
| LOC105371566 | 12 | Dec 19, 2025 |
| LOC112840921 | 1 | Jul 2, 2024 |
| LOC122152296 | 1 | Nov 5, 2021 |
| LOC123956210 | 1 | Oct 5, 2023 |
| MYO15A | 15 | Dec 19, 2025 |
| MYO6 | 5 | Mar 28, 2025 |
| MYO7A | 31 | Jun 30, 2025 |
| OTOF | 13 | Sep 23, 2025 |
| PRDM16 | 1 | Mar 31, 2024 |
| SLC26A4 | 27 | Sep 23, 2025 |
| SLC26A4-AS1 | 2 | Sep 23, 2025 |
| TBCEL-TECTA | 10 | Jun 30, 2025 |
| TECTA | 10 | Jun 30, 2025 |
| USH2A | 49 | Dec 19, 2025 |
| USH2A-AS1 | 3 | Mar 31, 2024 |
| USH2A-AS2 | 5 | Sep 23, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Jun 30, 2025 |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Dec 19, 2025 |
| Autosomal recessive nonsyndromic hearing loss 9 | 2 | Feb 7, 2023 |
| Nonsyndromic genetic hearing loss | 95 | Dec 19, 2025 |
| Pendred syndrome | 26 | Sep 23, 2025 |
| Retinal dystrophy | 2 | Jul 2, 2024 |
| Sensorineural hearing loss disorder | 1 | Oct 5, 2023 |
| Usher syndrome | 76 | Dec 19, 2025 |
| Usher syndrome type 1 | 1 | Feb 6, 2023 |
| Usher syndrome type 1B | 2 | Mar 28, 2025 |
| Usher syndrome type 2A | 1 | Jun 30, 2025 |
| not specified | 1 | Feb 27, 2019 |