ClinVar Miner

Variants studied for Coffin-Siris syndrome 12

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
11 8 19 0 0 38

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
BICRA 11 5 19 35
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541 0 1 0 1
BICRA, EHD2 0 1 0 1
BICRA, LOC121627883 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Revvity Omics, Revvity 0 0 5 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 3 1 5
Baylor Genetics 1 1 2 4
New York Genome Center 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 3
MGZ Medical Genetics Center 0 0 2 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Mendelics 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
North East Yorkshire Genomic Laboratory Hub 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1
MVZ Medizinische Genetik Mainz 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.