ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=)

gnomAD frequency: 0.00177  dbSNP: rs145886667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002060353 SCV002441630 benign MEGF8-related Carpenter syndrome 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424136 SCV004139631 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003424136 SCV005309758 benign not provided criteria provided, single submitter not provided

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