ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)

gnomAD frequency: 0.03297  dbSNP: rs116630802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542706 SCV000652879 benign MEGF8-related Carpenter syndrome 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722510 SCV001947315 benign not provided 2019-03-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722510 SCV005309753 benign not provided criteria provided, single submitter not provided

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