ClinVar Miner

Variants studied for Cockayne syndrome type A

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
21 26 52 2 13 110

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC8 19 26 48 2 13 104
ERCC8, NDUFAF2 2 0 4 0 0 6

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 36 2 12 50
Counsyl 4 18 15 0 0 37
Myriad Women's Health, Inc. 1 7 0 0 0 8
OMIM 5 0 0 0 0 5
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 2
Breda Genetics srl 2 0 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, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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

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