Variants studied for Cerebrooculofacioskeletal syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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