ClinVar Miner

Variants in gene ERCC6

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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
36 38 83 59 20 206

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cockayne syndrome 0 1 39 47 14 101
Cerebrooculofacioskeletal Syndrome 0 0 39 47 14 100
Macular degeneration 0 0 39 47 14 100
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 6 30 18 3 0 57
not provided 12 5 26 4 0 46
Cockayne syndrome B 24 5 2 0 0 30
not specified 0 0 7 11 14 25
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome; Age-related macular degeneration 5; Premature ovarian failure 11 3 0 5 0 0 8
ERCC6-Related Disorders 2 1 4 0 0 7
Cerebro-oculo-facio-skeletal syndrome 5 0 1 0 0 6
Inborn genetic diseases 3 0 0 0 0 3
DE SANCTIS-CACCHIONE SYNDROME 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 1 42 47 14 106
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
GeneDx 7 3 7 0 0 17
PreventionGenetics 0 0 0 1 11 12
OMIM 10 0 1 0 0 11
Genetic Services Laboratory, University of Chicago 4 0 2 5 0 11
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 2 0 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 3
Ambry Genetics 3 0 0 0 0 3
Invitae 2 1 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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