ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) (rs138613962)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507609 SCV000604553 likely benign not specified 2016-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298450 SCV000356943 likely benign Familial amyloid nephropathy with urticaria AND deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355663 SCV000356944 likely benign Chronic infantile neurological, cutaneous and articular syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263111 SCV000356945 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645589 SCV000767339 benign Cryopyrin associated periodic syndrome 2017-12-27 criteria provided, single submitter clinical testing

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