ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.196G>C (p.Asp66His)

dbSNP: rs104894403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018536 SCV000038818 pathogenic Mutilating keratoderma 1999-07-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678871 SCV000805064 pathogenic Hearing loss 2015-05-11 no assertion criteria provided clinical testing

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