ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.16_34del (p.Leu6fs) (rs104895334)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012713 SCV000032948 pathogenic Mevalonic aciduria 2005-03-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083827 SCV000115929 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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