ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=)

gnomAD frequency: 0.01216  dbSNP: rs35468447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650623 SCV000772470 benign MEGF8-related Carpenter syndrome 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001546859 SCV001766455 likely benign not provided 2021-10-11 criteria provided, single submitter clinical testing

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