ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)

dbSNP: rs1290684098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001291479 SCV001479983 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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