ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys)

gnomAD frequency: 0.00870  dbSNP: rs11881304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540003 SCV000652896 benign MEGF8-related Carpenter syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001584328 SCV001812383 likely benign not provided 2020-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001584328 SCV005208506 likely benign not provided criteria provided, single submitter not provided

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