ClinVar Miner

Variants studied for IRF6-related condition

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
93 48 217 63 100 10 512

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
IRF6 77 42 108 24 38 10 284
RIPK4 5 1 79 17 30 0 131
GRHL3 8 5 23 21 27 0 81
GRHL3, STPG1 0 0 6 1 4 0 11
C1orf74, IRF6 1 0 0 0 0 0 1
CACNA1E 1 0 0 0 0 0 1
CFAP57 0 0 0 0 1 0 1
CFAP57, LOC105378685, LOC126805719 0 0 1 0 0 0 1
CHUK 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 21 73 39 43 0 230
Illumina Laboratory Services, Illumina 0 0 110 20 60 0 190
OMIM 30 0 1 0 0 0 31
PreventionGenetics, part of Exact Sciences 6 6 10 5 0 0 27
Genome-Nilou Lab 0 0 0 0 16 0 16
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 5 3 1 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 3 1 1 1 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 1 0 0 6
GeneReviews 0 0 0 0 0 6 6
Faculty of Pharmacy, University of Ljubljana 2 2 1 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Iowa Institute Of Oral Health Research, University of Iowa 0 0 0 0 0 4 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
3billion 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Federal University of Alagoas 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.