ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.-482dup

dbSNP: rs144128307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316335 SCV000356866 uncertain significance Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375551 SCV000356867 uncertain significance Familial amyloid nephropathy with urticaria AND deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281083 SCV000356868 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome 2016-06-14 criteria provided, single submitter clinical testing

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