ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)

gnomAD frequency: 0.00001  dbSNP: rs758424787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810710 SCV001477878 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486094 SCV002781704 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-07-26 criteria provided, single submitter clinical testing

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