ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.1898-3C>T

gnomAD frequency: 0.00044  dbSNP: rs370752980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248663 SCV000312831 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875488 SCV001017823 likely benign Myopathy, proximal, and ophthalmoplegia 2024-10-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000875488 SCV003809447 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-07-29 criteria provided, single submitter clinical testing

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