ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.37A>T (p.Lys13Ter)

gnomAD frequency: 0.00002  dbSNP: rs104895307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005003460 SCV005632668 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-02-17 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083837 SCV000115939 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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