ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala)

gnomAD frequency: 0.00002  dbSNP: rs1337213084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001095695 SCV001251507 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A criteria provided, single submitter research The MYH14 c.5942G>C (p.G1981A) missense variant has not been reported in association with hearing loss; therefore is a variant of uncertain significance.

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