ClinVar Miner

Variants studied for Bernard-Soulier syndrome

Included ClinVar conditions (4):
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 49 5 8 2 118

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
GP1BA 12 11 16 1 2 1 42
GP9 7 5 21 3 6 1 40
GP1BB, SEPT5-GP1BB 7 15 10 1 0 0 32
GP1BA, LOC130060044 1 1 2 0 0 0 4

Submitter and significance breakdown #

Total submitters: 23
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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 19 19 20 0 0 0 57
Illumina Laboratory Services, Illumina 1 0 19 3 6 0 29
Fulgent Genetics, Fulgent Genetics 2 0 4 1 2 0 9
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 4 2 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 0 0 0 0 0 6
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
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Mendelics 1 0 0 1 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
3billion 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
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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