ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=)

dbSNP: rs149190709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558313 SCV000652866 benign MEGF8-related Carpenter syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001561193 SCV001783740 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001561193 SCV004139607 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7, BS2

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