ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.925G>A (p.Gly309Ser)

dbSNP: rs104895305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005003461 SCV005632725 likely pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-06-07 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083889 SCV000115995 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701744 SCV001928515 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701744 SCV001953482 likely pathogenic not provided no assertion criteria provided clinical testing

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