ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6481+11T>G

gnomAD frequency: 0.00270  dbSNP: rs138919410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002166404 SCV002474372 benign MEGF8-related Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002166404 SCV002807451 likely benign MEGF8-related Carpenter syndrome 2021-08-12 criteria provided, single submitter clinical testing

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