ClinVar Miner

Variants studied for IRF6-related condition

Included ClinVar conditions (12):
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
81 33 191 54 98 10 454

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IRF6 66 27 100 22 40 10 255
RIPK4 5 1 79 17 31 0 132
GRHL3 7 5 9 15 23 0 57
GRHL3, STPG1 0 0 2 0 3 0 5
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, LOC126805719 0 0 1 0 0 0 1
CHUK 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 117 21 64 0 202
Labcorp Genetics (formerly Invitae), Labcorp 46 17 52 30 37 0 182
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
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
Fulgent Genetics, Fulgent Genetics 1 1 0 1 1 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 1 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 1

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