ClinVar Miner

Variants in gene combination CCDST, FLG

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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
187 109 1345 483 162 21 2139

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 11 1 1240 167 0 0 1419
not provided 175 21 60 312 131 0 660
Ichthyosis vulgaris 53 73 51 5 58 2 213
FLG-related disorder 5 8 2 16 16 1 45
not specified 0 0 6 6 33 0 45
Dermatitis, atopic, 2; Ichthyosis vulgaris 11 20 10 2 0 5 43
Dermatitis, atopic, 2 10 12 4 0 0 0 25
Autosomal dominant ichthyosis vulgaris 4 3 4 0 0 0 11
Ichthyosis and erythrokeratoderma 4 1 2 0 0 0 7
Autosomal dominant and autosomal recessive FLG-related disorders 1 3 0 0 0 0 4
Dermatitis, atopic, 2, susceptibility to 4 0 0 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Palmoplantar keratodermas 1 1 2 0 0 0 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Autosomal recessive congenital ichthyosis 1 1 0 0 0 0 2
Eczematoid dermatitis 2 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Incidental Discovery 0 1 1 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Atopic eczema; Ichthyosis vulgaris 1 0 0 0 0 0 1
Autosomal dominant FLG-related disorders 0 1 0 0 0 0 1
Autosomal recessive FLG-related disorders 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Congenital cerebellar hypoplasia; Feeding difficulties; Ichthyosis; Microcephaly; Abnormality of the skin; Dry skin; Paroxysmal dystonia; Abnormality of salivation 1 0 0 0 0 0 1
Congenital portosystemic shunt 0 0 1 0 0 0 1
Dermatitis, atopic 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Megacolon 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Palmoplantar hyperhidrosis; Ichthyosis; Atrophic scars; Palmoplantar blistering 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1
Semidominant FLG-related disorders 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 11 1 1240 167 0 0 1419
GeneDx 172 4 14 50 116 0 356
CeGaT Center for Human Genetics Tuebingen 8 7 31 234 9 0 289
Breakthrough Genomics, Breakthrough Genomics 0 0 3 64 120 0 187
Genome-Nilou Lab 22 17 2 3 55 0 99
Department of Pathology and Laboratory Medicine, Sinai Health System 5 22 29 6 0 0 62
PreventionGenetics, part of Exact Sciences 2 5 2 16 16 0 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 0 24 9 0 38
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 35 0 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 0 5 18 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 7 19 1 0 0 0 27
Mendelics 20 4 0 0 0 0 24
Baylor Genetics 12 2 8 0 0 0 21
Revvity Omics, Revvity 8 10 1 0 0 0 19
Fulgent Genetics, Fulgent Genetics 5 5 6 2 0 0 18
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 6 6 0 0 0 18
Variantyx, Inc. 6 12 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 6 0 0 0 17
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 14 14
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 7 5 2 0 0 0 14
3billion 5 8 0 0 0 0 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 5 2 0 2 3 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 0 3 4 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 3 2 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 6 0 0 0 11
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 2 3 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 3 1 0 0 8
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 5 0 0 0 0 7
Dasa 6 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 4 1 2 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 4 0 7
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 5 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Illumina Laboratory Services, Illumina 4 2 0 0 0 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 4 1 0 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 3 2 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 3 0 0 0 0 5
OMIM 4 0 1 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 5
Reproductive Health Research and Development, BGI Genomics 5 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 3 1 1 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 4 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 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 1 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
Undiagnosed Diseases Network, NIH 3 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 0 0 2 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 2 0 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 2
Genetics Department, Catlab 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 1 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Medical Genetics Clinic, University of Catania 1 0 0 0 0 0 1
Medical Institute of Bioregulation, Kyushu university 0 0 0 0 1 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1

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