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: 77

Gene

GeneSubmissionsLast Updated
C10orf1051Jul 18, 2019
CDH235Jul 18, 2019
CDH23-AS11Feb 27, 2019
COCH5Jul 18, 2019
GJB214Jul 18, 2019
KCNQ43Feb 27, 2019
LOC1005060715Jul 18, 2019
LOC1027238332Feb 27, 2019
MYO64Jul 18, 2019
MYO7A6Jul 18, 2019
PRDM161Jul 18, 2019
SLC26A411Jul 18, 2019
SLC26A4-AS11Jul 18, 2019
TECTA8Jul 18, 2019
USH2A21Jul 18, 2019

Condition

NameSubmissionsLast Updated
Nonsyndromic hearing loss and deafness37Jul 18, 2019
Pendred syndrome11Jul 18, 2019
Usher syndrome21Jul 18, 2019
Usher syndrome type 23Jul 18, 2019
Usher syndrome, type 1D1Jul 18, 2019
Usher syndrome, type 2A2Jul 18, 2019
not specified2Jul 18, 2019
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