ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=)

dbSNP: rs749153853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176738 SCV002336752 likely benign MEGF8-related Carpenter syndrome 2024-11-10 criteria provided, single submitter clinical testing

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