Variants studied for Coffin-Siris syndrome

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	not provided	total
6	12	41	12	76	2	149

Gene and significance breakdown #

Total genes and gene combinations: 12

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SMARCA4	1	0	14	4	74	0	93
ARID1B	2	5	6	2	0	1	16
SMARCB1	1	7	3	1	2	0	14
ARID1A	2	0	6	2	0	1	11
ARID2	0	0	3	1	0	0	4
ARID1B, LOC115308161	0	0	3	0	0	0	3
KDM8	0	0	2	0	0	0	2
LOC130063547, SMARCA4	0	0	0	2	0	0	2
ARID1A, LOC129929837	0	0	1	0	0	0	1
ARID1B, LOC129997525	0	0	1	0	0	0	1
DPF2	0	0	1	0	0	0	1
SOX11	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	16	6	74	0	97
Department of Pathology and Laboratory Medicine, Sinai Health System	0	4	20	6	4	0	34
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	2	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	2	0	0	0	0	0	2
Laboratory of Molecular Genetics, CHU Rennes	0	2	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	0	1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu	1	0	0	0	0	0	1

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