ClinVar Miner

Variants studied for Bernard-Soulier syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
48 115 89 11 22 2 240

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GP1BA 22 64 31 1 8 1 107
GP9 11 21 34 6 10 1 67
GP1BB, SEPT5-GP1BB 13 29 21 3 4 0 60
GP1BA, LOC130060044 1 1 3 1 0 0 5
GP1BB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 13 67 35 5 17 0 137
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 19 19 20 0 0 0 57
Fulgent Genetics, Fulgent Genetics 5 17 7 1 2 0 32
Illumina Laboratory Services, Illumina 1 0 18 3 5 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 0 0 0 0 0 15
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 4 2 0 0 0 7
Revvity Omics, Revvity 2 1 3 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 4 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 1 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
OMIM 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 3
3billion 0 2 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Mendelics 1 0 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.