ClinVar Miner

Variants studied for Familial cold autoinflammatory syndrome 2

Coded as:
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 not provided total
10 7 672 328 81 1 1041

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NLRP12 10 7 670 328 81 1 1039
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 1
RAPGEFL1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 619 305 54 0 982
Illumina Laboratory Services, Illumina 0 0 46 15 45 0 106
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 20 20 26 0 66
Fulgent Genetics, Fulgent Genetics 0 0 6 4 2 0 12
Revvity Omics, Revvity 0 3 8 0 0 0 11
Baylor Genetics 1 0 5 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
OMIM 5 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Undiagnosed Diseases Network, NIH 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1

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