ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)

dbSNP: rs1561299289
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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 RCV000679820 SCV000804811 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291457 SCV001479961 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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