ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=)

gnomAD frequency: 0.00011  dbSNP: rs199681302
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872534 SCV001014358 benign MEGF8-related Carpenter syndrome 2024-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001559953 SCV001782281 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing

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