ClinVar Miner

Variants studied for Bernard Soulier syndrome

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 not provided total
27 32 40 5 6 1 107

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GP9 9 9 22 3 6 1 47
GP1BB, SEPT5-GP1BB 7 16 10 1 0 0 33
GP1BA 10 6 7 1 0 0 24
GP1BA, LOC130060044 1 1 1 0 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 16 13 12 0 0 0 41
Illumina Laboratory Services, Illumina 1 0 19 3 6 0 29
Fulgent Genetics, Fulgent Genetics 3 4 3 1 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 0 0 0 0 0 9
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 4 2 0 0 0 7
Revvity Omics, Revvity 1 0 3 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Baylor Genetics 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
3billion, Medical Genetics 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 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

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