ClinVar Miner

Variants in gene PROC

Minimum submission review status: Collection method:
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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 established risk allele not provided total
66 90 193 121 30 1 1 422

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Thrombophilia due to protein C deficiency, autosomal dominant 54 41 143 110 21 0 0 331
not provided 16 26 46 8 16 0 0 101
PROC-related disorder 3 5 9 15 2 0 0 34
Reduced protein C activity 1 23 7 0 1 0 0 32
Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 5 5 17 4 2 0 0 32
Thrombophilia due to protein C deficiency, autosomal recessive 15 4 4 0 3 0 0 25
not specified 0 0 10 3 3 0 0 16
Inborn genetic diseases 2 0 5 0 0 0 0 7
Deep venous thrombosis 0 3 3 0 0 0 0 6
Deep venous thrombosis; Thromboembolism 0 2 1 0 0 0 0 3
Hereditary thrombophilia due to congenital protein C deficiency 1 2 0 0 0 0 0 3
Thromboembolism 0 2 0 0 0 0 0 2
Thrombophilia 3 due to protein C deficiency 0 2 0 0 0 1 0 2
Abnormal thrombosis 1 0 0 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 0 1
Hereditary angioedema with normal C1Inh 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 10 93 100 20 0 0 265
Illumina Laboratory Services, Illumina 4 1 30 11 4 0 0 50
Mayo Clinic Laboratories, Mayo Clinic 10 16 18 0 0 0 0 44
PreventionGenetics, part of Exact Sciences 3 5 9 15 5 0 0 37
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 15 15 0 1 0 0 32
GeneDx 1 7 11 1 11 0 0 31
NIHR Bioresource Rare Diseases, University of Cambridge 1 24 6 0 0 0 0 31
Fulgent Genetics, Fulgent Genetics 4 4 16 2 2 0 0 28
OMIM 25 0 0 0 0 0 0 25
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 10 3 0 0 0 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 9 0 0 16
CeGaT Center for Human Genetics Tuebingen 3 2 6 1 1 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 9 1 0 0 0 11
CSER _CC_NCGL, University of Washington 1 2 8 0 0 0 0 11
Ambry Genetics 2 0 5 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 0 1 0 7
MVZ Dr. Eberhard & Partner Dortmund 1 2 3 0 0 0 0 6
Revvity Omics, Revvity 2 0 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
Mendelics 0 0 2 0 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 0 3
Phosphorus, Inc. 0 0 1 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 1 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
3billion 1 1 1 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
CeMIA 0 0 0 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 1

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