ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.1566C>T (p.Ala522=)

gnomAD frequency: 0.00010  dbSNP: rs142383679
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 RCV001501348 SCV001706156 likely benign Myopathy, proximal, and ophthalmoplegia 2024-06-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001501348 SCV003809517 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-12-04 criteria provided, single submitter clinical testing

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