ClinVar Miner

Variants in gene NLRP12

Minimum submission review status: Collection method:
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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 risk factor not provided total
10 16 773 368 119 3 20 1165

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial cold autoinflammatory syndrome 2 10 7 670 328 81 0 1 1039
not provided 1 5 77 40 46 0 17 171
Autoinflammatory syndrome 0 3 92 28 14 0 0 137
Inborn genetic diseases 0 0 44 2 0 0 0 46
NLRP12-related condition 0 0 15 22 2 0 0 39
not specified 0 0 6 3 18 0 0 27
Familial cold autoinflammatory syndrome 0 0 0 8 9 0 0 17
Multisystem inflammatory syndrome in children 0 0 0 0 0 2 0 2
See cases 0 1 1 0 0 0 0 2
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 0 0 0 0 1
Childhood-onset schizophrenia 0 1 0 0 0 0 0 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
NLRP12-associated autoinflammatory disease 0 0 1 0 0 0 0 1
NLRP12-related conditions 0 0 0 0 0 0 1 1
Periodic fever syndrome 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 4 0 618 309 54 0 0 985
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 92 28 14 0 0 137
Illumina Laboratory Services, Illumina 0 0 46 23 54 0 0 123
CeGaT Center for Human Genetics Tuebingen 0 4 41 33 10 0 0 88
GeneDx 1 1 29 0 36 0 0 67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 20 20 26 0 0 66
PreventionGenetics, part of Exact Sciences 0 0 15 23 10 0 0 48
Ambry Genetics 0 0 44 2 0 0 0 46
Fulgent Genetics, Fulgent Genetics 0 0 6 4 2 0 0 12
Revvity Omics, Revvity 0 3 8 0 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 0 0 0 0 10
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 8 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 3 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 5 0 0 7
OMIM 5 0 0 0 0 1 0 6
Baylor Genetics 1 0 5 0 0 0 0 6
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 6 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 5 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 2 0 4
Blueprint Genetics 0 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
Mendelics 0 0 1 0 1 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1

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