ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8433C>T (p.His2811=)

gnomAD frequency: 0.00067  dbSNP: rs371191311
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064500 SCV002359488 likely benign MEGF8-related Carpenter syndrome 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424391 SCV004139643 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MEGF8: BP4, BP7

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