ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)

dbSNP: rs886037624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV003482228 SCV004229558 pathogenic not provided 2022-10-27 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant appears to segregate with autosomal recessive nonsyndromic hearing loss and deafness in at least one family. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
OMIM RCV000018537 SCV000038819 pathogenic Autosomal recessive nonsyndromic hearing loss 1A 2000-01-01 no assertion criteria provided literature only

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