ClinVar Miner

Variants studied for Cerebrooculofacioskeletal syndrome 2

Coded as:
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
31 94 7 0 6 137

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ERCC2 31 94 7 6 137

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 30 92 3 0 125
Genome-Nilou Lab 0 0 0 6 6
OMIM 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 2
3billion 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1

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