ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.442G>A (p.Ala148Thr) (rs104895298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214102 SCV000279118 pathogenic not provided 2015-04-01 criteria provided, single submitter clinical testing The A148T missense mutation in the MVK gene has been reported previously in association with Hyper IgD syndrome (HIDS) (Houten et al., 2001). Another missense mutation at the same position, A148V, has also been published in association with HIDS (Bader-Meunier et al., 2011).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083844 SCV000115946 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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