Variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Minimum submission review status:		Collection method:
Minimum conflict level:
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	not provided	total
28	7	18	2	14	2	70

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
EP300	28	7	18	2	14	2	70

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	4	0	11	1	14	0	30
OMIM	9	0	0	0	0	0	9
Genetic Services Laboratory, University of Chicago	2	0	6	0	0	0	8
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR)	7	0	0	0	0	0	7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals	1	4	0	0	0	0	5
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille	1	0	0	1	0	0	2
SickKids Clinical Genetics Group,The Hospital for Sick Children	0	0	0	0	0	2	2
Baylor Miraca Genetics Laboratories,	0	0	1	0	0	0	1
Mendelics	1	0	0	0	0	0	1
ITMI	1	0	0	0	0	0	1
HudsonAlpha Institute for Biotechnology	1	0	0	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	0	1	0	0	0	0	1
Center of Genomic medicine, Geneva,University Hospital of Geneva	1	0	0	0	0	0	1
Center for Human Genetics,University of Leuven	0	1	0	0	0	0	1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM	1	0	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	0	1	0	0	0	0	1

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