ClinVar Miner

Variants in gene ERCC6

See also:
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 total
70 67 157 164 47 419

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 47 11 34 128 25 227
Cockayne syndrome B 24 29 100 8 14 172
Cerebrooculofacioskeletal syndrome 1 9 1 103 8 14 135
Age-related macular degeneration 5 0 0 81 25 14 120
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 3 28 18 3 0 52
Cockayne syndrome 0 2 8 11 11 32
COFS syndrome 0 0 6 11 11 28
Macular degeneration 0 0 6 11 11 28
not specified 0 0 7 11 14 25
DE SANCTIS-CACCHIONE SYNDROME 5 3 3 1 0 12
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B; Lung carcinoma; UV-sensitive syndrome 1; Age-related macular degeneration 5; Premature ovarian failure 11 3 0 5 0 0 8
ERCC6-Related Disorders 2 1 4 0 0 7
Inborn genetic diseases 4 1 0 0 0 5
none provided 1 0 2 0 0 3
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 43 6 1 124 25 199
Illumina Clinical Services Laboratory,Illumina 2 1 108 36 25 155
Counsyl 6 30 18 3 0 57
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 21 4 7 36
Claritas Genomics 14 5 7 1 6 33
Myriad Women's Health, Inc. 0 22 0 0 0 22
GeneDx 7 3 7 0 0 17
PreventionGenetics, PreventionGenetics 0 0 0 1 11 12
Genetic Services Laboratory, University of Chicago 4 0 2 5 0 11
OMIM 9 0 1 0 0 10
Baylor Genetics 6 0 3 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 7 0 0 9
Fulgent Genetics,Fulgent Genetics 3 0 5 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 4 0 7
Mendelics 2 0 3 1 0 6
Ambry Genetics 4 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.