Variants studied for Cockayne syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	total
27	33	53	2	13	121

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	24	33	49	2	13	114
ERCC8, NDUFAF2	2	0	4	0	0	6
DEPDC1B, ELOVL7, ERCC8	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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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
Myriad Genetics, Inc.	2	11	0	0	0	13
OMIM	5	0	0	0	0	5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	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
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
Breda Genetics srl	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
Claritas Genomics	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	1
Ege University Pediatric Genetics, Ege 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
Department of Medical Genetics, College of Basic Medicine, Army Medical University	1	0	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	1	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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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