ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.789C>G (p.Pro263=) (rs146181903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236622 SCV000292634 benign not specified 2015-08-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000945468 SCV001091487 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2019-12-31 criteria provided, single submitter clinical testing

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