ClinVar Miner

Variants studied for protein S deficiency

Included ClinVar conditions (6):
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 not provided total
71 58 193 116 24 1 1 419

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 risk factor not provided total
PROS1 69 58 192 116 24 1 1 416
ARL13B, DHFR2, NSUN3, PROS1, STX19 1 1 0 0 0 0 0 2
ARL13B, LOC123002313, LOC129937098, LOC129937099, PROS1, STX19 1 0 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 50 14 109 104 23 0 0 300
Illumina Laboratory Services, Illumina 1 0 65 11 2 0 0 79
NIHR Bioresource Rare Diseases, University of Cambridge 4 17 11 0 0 0 0 32
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 11 17 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 0 2 21 1 0 0 0 24
CSER _CC_NCGL, University of Washington 0 1 11 1 0 0 0 13
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 7 1 0 0 0 0 13
OMIM 11 0 0 0 0 0 0 11
Mendelics 0 0 1 0 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 0 3
Baylor Genetics 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Russ Altman Lab, Stanford University 0 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 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 0 1
New York Genome Center 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 0 1
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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