ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=)

gnomAD frequency: 0.00022  dbSNP: rs370578585
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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 RCV000966710 SCV001114058 likely benign MEGF8-related Carpenter syndrome 2024-11-23 criteria provided, single submitter clinical testing
GeneDx RCV002285430 SCV002575900 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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