ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1791T>C (p.Asp597=)

gnomAD frequency: 0.00001  dbSNP: rs755366479
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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 RCV001426564 SCV001629222 likely benign MEGF10-related myopathy 2022-02-03 criteria provided, single submitter clinical testing

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