ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)

gnomAD frequency: 0.00001  dbSNP: rs267607135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000157 SCV000020300 pathogenic Autosomal recessive nonsyndromic hearing loss 79 2010-03-12 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291490 SCV001479994 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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