ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=)

gnomAD frequency: 0.00061  dbSNP: rs145216125
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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 RCV000546822 SCV000652868 likely benign MEGF8-related Carpenter syndrome 2024-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424135 SCV004139616 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7

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