ClinVar Miner

Variants studied for progeroid syndrome

Included ClinVar conditions (26):
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
465 419 2643 1457 193 1 38 5013

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
WRN 296 188 1904 1147 97 0 10 3520
ERCC4 25 5 275 186 25 0 1 513
ERCC6 47 115 150 27 28 0 0 337
LMNA 13 12 109 29 9 0 22 186
ERCC8 28 40 50 4 13 0 0 122
LOC126860342, WRN 0 0 47 30 3 0 0 79
ERCC4, LOC130058543 4 0 33 16 1 0 0 54
NAA10 16 14 11 2 0 0 0 38
POLR3A 19 24 2 3 0 0 2 34
ERCC6, PGBD3 2 10 15 3 1 0 0 31
BANF1 1 0 11 4 5 0 0 21
ERCC6, LOC126860933 2 7 5 1 3 0 0 18
LMNA, LOC126805877 0 0 7 1 2 0 1 11
ERCC6, LOC130003806 0 1 7 0 2 0 0 10
ERCC8, NDUFAF2 2 0 4 1 3 0 0 10
BANF1, EIF1AD, LOC130006089 0 0 4 1 0 0 0 5
LMNA, LOC129931597 0 0 3 2 1 0 0 5
BANF1, LOC130006090 0 0 2 0 0 0 0 2
ERCC1 0 0 0 0 0 0 2 2
LOC126860970, POLR3A 2 2 0 0 0 0 0 2
LOC130000177, WRN 0 0 2 0 0 0 0 2
TOMM7 2 0 0 0 0 0 0 2
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4 1 0 0 0 0 0 0 1
DEPDC1B, ELOVL7, ERCC8 1 0 0 0 0 0 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 0 1
LEMD2 1 0 0 0 0 0 0 1
LOC126860971, POLR3A 1 1 0 0 0 0 0 1
LOC130000177, PURG, WRN 0 0 1 0 0 0 0 1
LOC130068840, NAA10 1 0 0 0 0 0 0 1
PTPN11 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 309 100 2170 1363 112 0 0 4054
Illumina Laboratory Services, Illumina 1 3 318 57 83 0 0 461
Fulgent Genetics, Fulgent Genetics 21 9 133 28 3 0 0 194
Baylor Genetics 40 98 23 0 0 0 0 161
Counsyl 7 58 44 6 0 0 0 115
Myriad Genetics, Inc. 2 76 0 0 0 0 0 78
OMIM 51 0 1 0 0 0 0 52
Genome-Nilou Lab 0 0 0 1 47 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 17 0 0 0 0 0 37
GeneReviews 0 0 0 0 0 0 27 27
Claritas Genomics 17 5 0 0 0 0 0 22
Revvity Omics, Revvity 4 2 12 0 0 0 0 18
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 15 0 0 0 1 0 16
Mendelics 2 6 2 1 4 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 12 2 0 0 0 0 14
3billion 4 6 2 2 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 3 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 5 0 6 0 0 0 0 11
Cole/Wambach Lab, Washington University in St. Louis 9 1 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 8 0 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 4 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 0 1 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Arnesen Lab, University of Bergen 4 1 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 5 0 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 0 0 4
DASA 1 3 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 3
Breda Genetics srl 2 0 1 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 1 0 0 0 0 0 3
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 2 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 1 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 1 0 0 2
Center for Medical Genetics, Keio University School of Medicine 2 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Children's Hospital of Soochow University, Soochow University 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 0 1
DESAM Institute, Near East University 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 1
Clinical Genetics Unit, University Hospital Principe de Asturias 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Department of Animal Biology, Molecular and Human Genetics Lab, University of Tabriz 1 0 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 0 0 1

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