ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=)

gnomAD frequency: 0.00096  dbSNP: rs140035679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878129 SCV001020985 likely benign MEGF8-related Carpenter syndrome 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311536 SCV001501737 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7

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