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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088255 SCV000641391 likely benign Myopathy, proximal, and ophthalmoplegia 2025-01-23 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
Athena Diagnostics RCV000594531 SCV005622101 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be benign.

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