ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.390G>A (p.Leu130=)

gnomAD frequency: 0.00034  dbSNP: rs377093238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872618 SCV001014465 likely benign MEGF8-related Carpenter syndrome 2023-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389740 SCV001746582 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7

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