ClinVar Miner

Variants in gene PLG

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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 risk factor not provided total
16 11 279 154 84 1 2 517

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 7 4 188 143 83 0 1 411
Plasminogen deficiency, type I; Angioedema, hereditary, 4 2 4 113 8 2 0 0 129
Inborn genetic diseases 0 0 53 3 0 0 0 56
not specified 0 0 13 14 7 0 0 34
Plasminogen deficiency, type I 6 3 11 0 7 0 0 25
PLG-related disorder 1 1 6 12 1 0 0 21
Angioedema, hereditary, 4 2 0 0 1 7 0 0 10
Otitis media, susceptibility to 0 0 3 0 2 0 0 5
Deep venous thrombosis 0 0 4 0 0 0 0 4
Dysplasminogenemia 3 0 0 0 0 0 0 3
Thrombus 0 0 2 0 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 0 1 0 0 0 0 1
Atypical hemolytic-uremic syndrome 0 0 1 0 0 0 0 1
Cystic fibrosis 0 0 0 0 0 1 0 1
Hereditary angioedema with normal C1Inh 0 0 0 0 0 0 1 1
Hereditary angioneurotic edema 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 168 137 38 0 0 351
Fulgent Genetics, Fulgent Genetics 2 5 111 7 2 0 0 127
GeneDx 1 0 3 0 57 0 0 61
Ambry Genetics 0 0 53 3 0 0 0 56
Mayo Clinic Laboratories, Mayo Clinic 0 2 29 0 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 13 14 1 0 0 29
PreventionGenetics, part of Exact Sciences 1 1 6 12 1 0 0 21
CeGaT Center for Human Genetics Tuebingen 0 0 3 9 3 0 0 15
OMIM 10 0 0 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 6 1 0 0 0 9
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 6 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 6 0 0 0 0 6
Santos-Cortez Lab, University of Colorado School of Medicine 0 0 3 0 2 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 0 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 3 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 0 3
Eurofins Ntd Llc (ga) 2 0 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 1 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 1
Genatak 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science, University of Alabama 0 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
CeMIA 0 0 0 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 1

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