ClinVar Miner

Variants in gene NLRP3

Minimum submission review status: Collection method:
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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
24 14 196 131 65 111 449

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cryopyrin associated periodic syndrome 11 5 109 63 24 0 212
Familial cold autoinflammatory syndrome 1 5 0 37 11 44 98 176
not provided 11 6 55 45 9 13 136
Chronic infantile neurological, cutaneous and articular syndrome 3 1 39 9 45 0 97
Familial amyloid nephropathy with urticaria AND deafness 5 0 38 9 45 0 97
not specified 1 1 10 45 25 0 76
none provided 2 0 4 2 12 0 20
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 0 0 6 0 0 1 6
Familial cold autoinflammatory syndrome 0 0 3 1 2 0 6
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; 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 1 0 0 2
Fever; Pericardial effusion; Pleural effusion 0 1 0 0 0 0 1
Hearing impairment 0 0 0 0 1 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 5 109 82 25 0 232
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 98 98
GeneDx 9 5 45 27 11 0 97
Illumina Clinical Services Laboratory,Illumina 0 0 37 11 45 0 93
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 12 13 17 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 13 17 0 34
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 12 10 0 0 25
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 13 13
OMIM 12 0 0 0 0 0 12
Athena Diagnostics Inc 0 0 2 1 7 0 10
PreventionGenetics, PreventionGenetics 0 0 0 4 6 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Baylor Genetics 0 0 3 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 1 0 3
Fulgent Genetics,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
Mendelics 0 0 1 0 1 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 0 0 1 0 1

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