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: [email protected] - Andrea Oza, Genetic Counselor
Phone: 617-768-8500
Email: [email protected] - Mayher Patel, Coordinator
Phone: 617-768-8500
Email: [email protected]
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 201
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| C10orf105 | 2 | May 26, 2020 |
| CDH23 | 18 | Jul 2, 2024 |
| CDH23-AS1 | 2 | Jun 30, 2023 |
| COCH | 5 | Feb 6, 2023 |
| GJB2 | 30 | Jul 2, 2024 |
| KCNQ4 | 4 | Jul 2, 2024 |
| LOC100506071 | 5 | Feb 6, 2023 |
| LOC105371566 | 11 | Oct 1, 2024 |
| LOC112840921 | 1 | Jul 2, 2024 |
| LOC122152296 | 1 | Nov 5, 2021 |
| LOC123956210 | 1 | Oct 5, 2023 |
| MYO15A | 14 | Oct 1, 2024 |
| MYO6 | 5 | Oct 5, 2023 |
| MYO7A | 29 | Sep 30, 2024 |
| OTOF | 13 | Oct 1, 2024 |
| PRDM16 | 1 | Mar 31, 2024 |
| SLC26A4 | 27 | Mar 31, 2024 |
| SLC26A4-AS1 | 2 | Mar 31, 2024 |
| TBCEL-TECTA | 10 | Nov 5, 2021 |
| TECTA | 10 | Nov 5, 2021 |
| USH2A | 46 | Jul 2, 2024 |
| USH2A-AS1 | 3 | Mar 31, 2024 |
| USH2A-AS2 | 5 | Mar 31, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 9 | 2 | Feb 7, 2023 |
| Nonsyndromic genetic hearing loss | 94 | Oct 1, 2024 |
| Pendred syndrome | 26 | Mar 31, 2024 |
| Retinal dystrophy | 2 | Jul 2, 2024 |
| Sensorineural hearing loss disorder | 1 | Oct 5, 2023 |
| Usher syndrome | 73 | Sep 30, 2024 |
| Usher syndrome type 1 | 1 | Feb 6, 2023 |
| Usher syndrome type 1B | 1 | Feb 6, 2023 |
| not specified | 1 | Feb 27, 2019 |