ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)

dbSNP: rs1562817529
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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 RCV000679839 SCV000804830 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291242 SCV001479667 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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