ClinVar Miner

Variants studied for Thrombophilia due to protein S deficiency, autosomal dominant

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 risk factor total
15 23 88 12 5 1 136

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PROS1 15 23 88 12 5 1 136

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 1 0 65 11 2 0 79
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 6 12 0 0 0 18
CSER _CC_NCGL, University of Washington 0 1 11 1 0 0 13
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 7 1 0 0 0 13
OMIM 8 0 0 0 0 0 8
Mendelics 0 0 1 0 3 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Russ Altman Lab, Stanford University 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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