ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.604G>A (p.Gly202Arg) (rs104895301)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090935 SCV001246718 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
OMIM RCV000032938 SCV000056710 pathogenic Hyperimmunoglobulin D with periodic fever 2012-10-01 no assertion criteria provided literature only
OMIM RCV000032939 SCV000056711 pathogenic Mevalonic aciduria 2012-10-01 no assertion criteria provided literature only
OMIM RCV000032940 SCV000056712 pathogenic Porokeratosis 3, disseminated superficial actinic type 2012-10-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000032938 SCV000115956 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided
Institute of Human Genetics, Klinikum rechts der Isar RCV000032939 SCV001429936 pathogenic Mevalonic aciduria 2020-03-23 no assertion criteria provided clinical testing
GeneDx RCV001090935 SCV001797086 likely pathogenic not provided 2019-02-12 no assertion criteria provided clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33168400, 19543954, 11313769, 22566169, 22983302, 16835861, 16011988, 21274502, 27422687, 26794421, 15324368, 24131530, 24008101)

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