ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=)

gnomAD frequency: 0.00407  dbSNP: rs138473998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871018 SCV001012613 benign MEGF8-related Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002249563 SCV002520318 likely benign not provided 2021-10-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002249563 SCV004139625 benign not provided 2023-01-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7, BS1, BS2

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