ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)

dbSNP: rs1558464965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV000681539 SCV000807731 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291229 SCV001479654 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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