ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=)

gnomAD frequency: 0.01393  dbSNP: rs78335246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871019 SCV001012614 benign MEGF8-related Carpenter syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001638008 SCV001852041 benign not provided 2020-09-08 criteria provided, single submitter clinical testing

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