ClinVar Miner

Variants studied for COFS syndrome

Included ClinVar conditions (11):
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
37 48 242 46 59 417

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ERCC6 10 28 123 22 25 203
BIVM-ERCC5, ERCC5 16 3 79 16 26 131
ERCC6, ERCC6-PGBD3 1 13 24 5 6 48
ERCC6, ERCC6-PGBD3, PGBD3 1 1 13 3 1 19
ERCC2 5 1 1 0 0 7
ERCC1 2 1 2 0 0 5
ERCC5 2 1 0 0 0 3
ERCC1, POLR1G 0 0 0 0 1 1

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 0 210 34 57 301
Counsyl 4 41 29 6 0 80
OMIM 25 0 0 0 0 25
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 7 7 17
Fulgent Genetics,Fulgent Genetics 7 0 8 0 0 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 5 6 13
Mendelics 1 0 1 2 1 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 3 4
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 1

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