ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) (rs113993956)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000023718 SCV000292358 pathogenic Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2015-08-18 criteria provided, single submitter research This variant has been previously reported as disease-causing and was identified in a 12 yo male with axonal neuropathy and neurosensory hearing loss.
OMIM RCV000023718 SCV000045009 pathogenic Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2011-06-01 no assertion criteria provided literature only

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