ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.780A>G (p.Arg260=)

gnomAD frequency: 0.92770  dbSNP: rs4925543
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455066 SCV000539914 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810943 SCV000604546 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519828 SCV001728767 benign Cryopyrin associated periodic syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001782923 SCV002026807 benign Familial cold autoinflammatory syndrome 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001782925 SCV002026808 benign Chronic infantile neurological, cutaneous and articular syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001782926 SCV002026811 benign Keratitis fugax hereditaria 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001782924 SCV002026812 benign Familial amyloid nephropathy with urticaria AND deafness 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455066 SCV004101889 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001810943 SCV005283134 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000455066 SCV001740842 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000455066 SCV001929497 benign not specified no assertion criteria provided clinical testing

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