ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=)

gnomAD frequency: 0.00026  dbSNP: rs373710119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534887 SCV000652873 likely benign MEGF8-related Carpenter syndrome 2016-11-17 criteria provided, single submitter clinical testing

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