ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.332C>T (p.Ala111Val)

gnomAD frequency: 0.00040  dbSNP: rs140468333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088255 SCV000641391 likely benign Myopathy, proximal, and ophthalmoplegia 2024-01-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594531 SCV000703938 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000594531 SCV003805438 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001088255 SCV003809501 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-08-02 criteria provided, single submitter clinical testing

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