ClinVar Miner

Variants studied for cerebrooculofacioskeletal syndrome 1

Included ClinVar conditions (5):
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
19 45 174 31 34 297

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 total
ERCC6 15 38 139 26 28 240
ERCC6, ERCC6-PGBD3 2 4 7 1 0 14
ERCC6, LOC126860933 1 2 5 1 3 12
ERCC6, PGBD3 1 1 6 2 1 11
ERCC6, ERCC6-PGBD3, PGBD3 0 0 9 1 0 10
ERCC6, LOC130003806 0 0 7 0 2 9
ERCC2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 133 24 32 189
Counsyl 4 40 29 6 0 79
Fulgent Genetics, Fulgent Genetics 9 0 17 2 0 28
Genome-Nilou Lab 0 1 0 0 7 8
Baylor Genetics 3 0 4 0 0 7
OMIM 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 2
3billion 1 1 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1

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