ClinVar Miner

Variants studied for familial cold autoinflammatory syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
23 14 1776 1172 255 100 3215

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLCG2 4 2 607 597 97 1 1272
NLRP12 10 8 680 332 85 1 1056
NLRC4 4 0 394 211 25 0 632
NLRP3 5 4 89 32 48 98 249
NLRC4, SLC30A6, SPAST 0 0 2 0 0 0 2
BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2 0 0 1 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 1
RAPGEFL1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 1 1611 1083 170 0 2873
Fulgent Genetics, Fulgent Genetics 2 1 139 116 4 0 262
Illumina Laboratory Services, Illumina 0 0 83 34 99 0 216
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 98 98
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 20 20 26 0 66
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 23 1 0 0 24
Genome-Nilou Lab 0 0 0 0 21 0 21
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 0 3 8 0 0 0 11
Baylor Genetics 1 0 9 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 7 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 2 1 2 0 0 5
Undiagnosed Diseases Network, NIH 0 0 4 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Mendelics 0 0 0 0 3 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 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
Center for Precision Medicine, Vanderbilt University Medical Center 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
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.