ClinVar Miner

Variants in gene NLRP12

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 risk factor not provided total
10 5 333 117 74 1 16 499

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial cold autoinflammatory syndrome 2 10 2 304 87 68 0 1 434
not provided 0 2 39 39 2 0 14 92
Familial cold autoinflammatory syndrome 0 0 0 8 9 0 0 17
not specified 0 0 1 2 9 0 0 12
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
Periodic fever syndrome 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 4 0 254 82 33 0 0 373
Illumina Clinical Services Laboratory,Illumina 0 0 46 23 54 0 0 123
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 10 13 17 0 0 42
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 26 10 0 0 0 38
GeneDx 0 0 10 0 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 0 9
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 8 8
OMIM 5 0 0 0 0 1 0 6
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 6 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 5 0 0 5
Baylor Genetics 0 0 4 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 0 0 3
Blueprint Genetics 0 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Dr. Guy Rouleau's laboratory,McGill University 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1

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