ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)

dbSNP: rs180177435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004720235 SCV005328346 likely pathogenic Familial amyloid nephropathy with urticaria AND deafness 2024-09-25 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084214 SCV000116348 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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