ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.352-4G>A

gnomAD frequency: 0.00396  dbSNP: rs143955737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551032 SCV000652871 benign MEGF8-related Carpenter syndrome 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001709667 SCV001937569 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821603 SCV002065958 benign not specified 2019-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709667 SCV005307546 benign not provided criteria provided, single submitter not provided

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