ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=)

gnomAD frequency: 0.00664  dbSNP: rs62648096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552903 SCV000652880 benign MEGF8-related Carpenter syndrome 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531471 SCV001746583 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7, BS2
GeneDx RCV001531471 SCV001830685 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing

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