ClinVar Miner

Variants studied for ichthyosis vulgaris

Included ClinVar conditions (4):
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
52 75 64 6 56 6 227

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CCDST, FLG 52 75 64 6 56 6 227

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 22 17 2 3 55 0 99
Department of Pathology and Laboratory Medicine, Sinai Health System 3 21 27 2 0 0 53
Mendelics 20 4 0 0 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 6 14 1 0 0 0 21
Baylor Genetics 11 2 8 0 0 0 20
Fulgent Genetics, Fulgent Genetics 5 5 6 2 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 6 0 0 0 17
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 7 4 2 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 6 0 0 0 0 12
Revvity Omics, Revvity 5 5 1 0 0 0 11
3billion 3 5 0 0 0 0 8
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 5 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 3 1 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Reproductive Health Research and Development, BGI Genomics 5 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 1 0 0 0 5
OMIM 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 3 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Genetics Department, Catlab 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Medical Institute of Bioregulation, Kyushu university 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 1 0 0 0 0 0 1

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