ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2145G>A (p.Thr715=)

gnomAD frequency: 0.00003  dbSNP: rs200994008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246881 SCV000314962 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479498 SCV001683794 likely benign MEGF10-related myopathy 2024-01-25 criteria provided, single submitter clinical testing

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