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: 157

Gene

GeneSubmissionsLast Updated
C10orf1052May 26, 2020
CDH2315Oct 20, 2020
CDH23-AS12Feb 7, 2020
COCH5Jul 18, 2019
GJB222Aug 11, 2020
KCNQ44Feb 7, 2020
LOC1005060715Jul 18, 2019
MYO64Jul 18, 2019
MYO7A26Oct 20, 2020
PRDM161Nov 1, 2019
SLC26A425Oct 20, 2020
SLC26A4-AS12Nov 1, 2019
TBCEL-TECTA10Feb 7, 2020
TECTA10Feb 7, 2020
USH2A46Oct 20, 2020
USH2A-AS13Feb 7, 2020
USH2A-AS25May 26, 2020

Condition

NameSubmissionsLast Updated
Nonsyndromic hearing loss and deafness56Oct 20, 2020
Pendred syndrome25Oct 20, 2020
Sensorineural hearing loss1Nov 1, 2019
Usher syndrome73Oct 20, 2020
not specified2Jul 18, 2019
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