ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)

gnomAD frequency: 0.00007  dbSNP: rs139130605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176756 SCV000228467 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001405037 SCV001606949 likely benign Myopathy, proximal, and ophthalmoplegia 2020-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000176756 SCV001791507 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing

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