ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)

gnomAD frequency: 0.00618  dbSNP: rs115536529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525005 SCV000652872 benign MEGF8-related Carpenter syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003222036 SCV003918771 likely benign not provided 2022-04-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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