ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)

gnomAD frequency: 0.00001  dbSNP: rs200656442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000087054 SCV000119868 pathogenic Autosomal recessive nonsyndromic hearing loss 22 2013-09-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291114 SCV001479480 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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