ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.171C>T (p.Tyr57=)

gnomAD frequency: 0.00001  dbSNP: rs199718339
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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 RCV002127636 SCV002414342 likely benign MEGF10-related myopathy 2023-04-25 criteria provided, single submitter clinical testing

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