ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys)

gnomAD frequency: 0.00002  dbSNP: rs773353115
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790516 SCV000929846 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A criteria provided, single submitter research

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