ClinVar Miner

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

dbSNP: rs146181903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481339 SCV001685681 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001692387 SCV001908962 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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