ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.528-18G>A

dbSNP: rs1885416038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681637 SCV001900637 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771836 SCV004609149 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-09-21 criteria provided, single submitter clinical testing

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