ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)

gnomAD frequency: 0.00001  dbSNP: rs529367667
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417940 SCV001620153 likely benign Myopathy, proximal, and ophthalmoplegia 2024-10-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001417940 SCV003809449 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-05-13 criteria provided, single submitter clinical testing

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