ClinVar Miner

Variants studied for Cockayne syndrome type 1

Included ClinVar conditions (2):
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 total
39 54 57 3 13 150

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC8 36 54 53 3 13 143
ERCC8, NDUFAF2 2 0 4 0 0 6
DEPDC1B, ELOVL7, ERCC8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 36 2 12 50
Counsyl 3 18 15 0 0 36
Fulgent Genetics, Fulgent Genetics 10 19 1 1 0 31
Myriad Genetics, Inc. 2 13 0 0 0 15
OMIM 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 4
3billion 2 0 1 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 3
Breda Genetics srl, Breda Genetics srl 2 0 0 0 0 2
Center for Medical Genetics, Keio University School of Medicine 2 0 0 0 0 2
Children's Hospital of Soochow University, Soochow University 2 0 0 0 0 2
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 2
Baylor Genetics 0 1 0 0 0 1
Claritas Genomics 1 0 0 0 0 1
Dasa 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1

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