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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

Personnel

Assertion criteria

Level: Expert panel

Summary of submissions to ClinVar

Total submissions: 201

Gene

GeneSubmissionsLast Updated
C10orf1052May 26, 2020
CDH2318Jul 2, 2024
CDH23-AS12Jun 30, 2023
COCH5Feb 6, 2023
GJB230Jul 2, 2024
KCNQ44Jul 2, 2024
LOC1005060715Feb 6, 2023
LOC10537156611Oct 1, 2024
LOC1128409211Jul 2, 2024
LOC1221522961Nov 5, 2021
LOC1239562101Oct 5, 2023
MYO15A14Oct 1, 2024
MYO65Oct 5, 2023
MYO7A29Sep 30, 2024
OTOF13Oct 1, 2024
PRDM161Mar 31, 2024
SLC26A427Mar 31, 2024
SLC26A4-AS12Mar 31, 2024
TBCEL-TECTA10Nov 5, 2021
TECTA10Nov 5, 2021
USH2A46Jul 2, 2024
USH2A-AS13Mar 31, 2024
USH2A-AS25Mar 31, 2024

Condition

NameSubmissionsLast Updated
Autosomal recessive nonsyndromic hearing loss 92Feb 7, 2023
Nonsyndromic genetic hearing loss94Oct 1, 2024
Pendred syndrome26Mar 31, 2024
Retinal dystrophy2Jul 2, 2024
Sensorineural hearing loss disorder1Oct 5, 2023
Usher syndrome73Sep 30, 2024
Usher syndrome type 11Feb 6, 2023
Usher syndrome type 1B1Feb 6, 2023
not specified1Feb 27, 2019