ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)

dbSNP: rs121908151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004624 SCV000024798 pathogenic Familial amyloid nephropathy with urticaria AND deafness 2002-06-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084204 SCV000116337 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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