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
12 3 94 54 36 1 15 188

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 12 1 50 9 25 0 0 93
Familial cold autoinflammatory syndrome 0 0 25 48 10 0 0 83
not provided 0 1 21 1 0 0 14 36
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 7 1 45 8 24 0 0 85
Illumina Clinical Services Laboratory,Illumina 0 0 27 48 10 0 0 85
GeneDx 0 0 10 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 1 0 0 0 10
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
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 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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

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