ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1548T>C (p.Cys516=)

gnomAD frequency: 0.00001  dbSNP: rs781192168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430065 SCV001632789 likely benign MEGF10-related myopathy 2023-04-24 criteria provided, single submitter clinical testing

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