ClinVar Miner

Variants studied for COFS syndrome

Included ClinVar conditions (12):
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 not provided total
36 50 87 71 29 1 260

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 10 30 58 50 14 0 155
ERCC6, ERCC6-PGBD3 1 14 14 9 5 0 42
BIVM-ERCC5, ERCC5 15 3 5 7 9 0 34
ERCC6, ERCC6-PGBD3, PGBD3 1 1 8 5 1 0 16
ERCC2 5 1 1 0 0 1 7
ERCC1 2 1 1 0 0 0 4
ERCC5 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 55 58 20 0 133
Counsyl 7 45 29 6 0 0 87
OMIM 25 0 0 0 0 0 25
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 7 7 0 17
Fulgent Genetics 7 0 8 0 0 0 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 5 6 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 3 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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