ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)

dbSNP: rs370965183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032888 SCV000056659 pathogenic Autosomal recessive nonsyndromic hearing loss 48 2012-11-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291224 SCV001479649 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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