ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.314C>T (p.Ala105Val)

dbSNP: rs1567940507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV000754558 SCV000853296 likely pathogenic Hearing impairment 2018-10-08 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000754558 SCV001439131 likely pathogenic Hearing impairment no assertion criteria provided research

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