ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)

dbSNP: rs1064797090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000623392 SCV000740307 likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A 2018-01-24 criteria provided, single submitter clinical testing

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