ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)

gnomAD frequency: 0.00037  dbSNP: rs143508185
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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 RCV000707682 SCV000836788 benign MEGF8-related Carpenter syndrome 2024-12-24 criteria provided, single submitter clinical testing

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