ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser)

gnomAD frequency: 0.00010  dbSNP: rs549617171
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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 RCV002064684 SCV002350125 likely benign MEGF8-related Carpenter syndrome 2024-03-09 criteria provided, single submitter clinical testing

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