ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly)

gnomAD frequency: 0.00506  dbSNP: rs537269414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514372 SCV000610196 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001085900 SCV001022200 benign MEGF8-related Carpenter syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514372 SCV001791175 likely benign not provided 2023-08-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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