ClinVar Miner

Variants studied for peripheral vascular disease

Included ClinVar conditions (19):
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
856 248 890 811 313 32 2901

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENG 312 65 326 312 69 0 1004
ACVRL1 373 136 223 161 86 3 918
ENG, LOC102723566 136 38 113 153 27 2 430
SCN1A, SCN9A 9 3 102 47 106 19 241
GDF2 19 4 77 123 11 0 223
SCN9A 4 1 22 7 11 7 42
SMAD4 0 0 27 8 3 1 39
ACVRL1, LOC130007932 1 0 0 0 0 0 1
AGAP10, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488 1 0 0 0 0 0 1
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6 1 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 1
PSEN1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 738 131 519 675 127 0 2190
Illumina Laboratory Services, Illumina 1 0 215 107 156 0 447
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 58 12 35 24 64 0 193
Fulgent Genetics, Fulgent Genetics 14 15 136 16 2 0 183
NIHR Bioresource Rare Diseases, University of Cambridge 62 35 6 13 1 0 117
Genome-Nilou Lab 0 0 0 0 49 0 49
OMIM 43 0 0 0 0 0 43
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 11 6 10 10 2 0 39
Molecular Genetics, Royal Melbourne Hospital 16 9 8 1 1 0 35
Rare Disease Genomics Group, St George's University of London 30 0 0 0 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 4 2 0 0 0 27
GeneReviews 0 0 0 0 0 16 16
Baylor Genetics 4 5 4 0 0 0 13
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 4 2 0 0 0 13
Revvity Omics, Revvity 3 1 6 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Genetics and Molecular Pathology, SA Pathology 3 5 1 0 0 0 9
Genetics, Medical University of Vienna 0 8 0 0 0 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 1 1 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 0 2 1 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 3 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
MGZ Medical Genetics Center 2 2 1 0 0 0 5
Mendelics 1 0 1 0 3 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 2 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 3 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
3billion, Medical Genetics 1 1 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Blueprint Genetics 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 1
HHT Research Lab - C. Olivieri, University Of Pavia 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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