ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)

gnomAD frequency: 0.00001  dbSNP: rs1373237213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989751 SCV001140296 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000989751 SCV003817193 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-02-14 criteria provided, single submitter clinical testing

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