ClinVar Miner

Variants in gene NLRP3

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
17 8 90 70 38 111 271

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial cold urticaria 5 0 1 0 0 98 99
not provided 9 6 50 7 12 13 94
Familial amyloid nephropathy with urticaria AND deafness 5 0 19 31 12 0 67
Chronic infantile neurological, cutaneous and articular syndrome 3 0 19 31 12 0 65
Familial cold autoinflammatory syndrome 0 0 19 34 12 0 65
not specified 0 0 6 31 21 0 54
Cryopyrin associated periodic syndrome 3 0 21 11 15 0 50
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 0 0 4 0 0 1 4
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria; DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 1 0 2 0 0 0 3
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 1 0 0 0 0 0 1
Fever; Pericardial effusion; Pleural effusion 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Keratitis fugax hereditaria 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 98 98
GeneDx 9 5 45 24 11 0 94
Illumina Clinical Services Laboratory,Illumina 0 0 19 34 12 0 65
Invitae 3 0 21 11 15 0 50
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 6 5 13 0 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 11 0 13
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 13 13
OMIM 12 0 0 0 0 0 12
PreventionGenetics 0 0 0 4 6 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 5 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 1 0 3
Fulgent Genetics 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Blueprint Genetics, 0 1 1 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Ambry Genetics 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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