ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.318dup (p.Arg107fs)

dbSNP: rs2147945859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV001824097 SCV002073682 likely pathogenic Hand muscle atrophy no assertion criteria provided clinical testing

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