ClinVar Miner

Submissions for variant NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly) (rs121908148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004620 SCV000024794 pathogenic Familial cold urticaria 2001-11-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000004620 SCV000116345 not provided Familial cold urticaria no assertion provided not provided

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