ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)

dbSNP: rs121908148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262555 SCV002542610 likely pathogenic Autoinflammatory syndrome 2017-01-06 criteria provided, single submitter clinical testing
OMIM RCV000004620 SCV000024794 pathogenic Familial cold autoinflammatory syndrome 1 2001-11-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000004620 SCV000116345 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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