ClinVar Miner

Variants studied for Cowden syndrome 1

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
427 198 384 464 292 12 1699

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 403 193 86 149 270 9 1033
PIK3CA 21 4 265 306 20 0 615
SDHB 0 0 9 3 1 1 14
KLLN, PTEN 0 0 9 0 1 0 10
LOC130004273, MLDHR, PTEN 1 0 5 1 0 1 8
KLLN, LOC130004273, PTEN 0 0 1 2 0 0 3
LOC130004274, PTEN 0 0 2 0 0 1 3
LOC129929542, SDHB 0 0 2 0 0 0 2
SDHC 0 0 1 1 0 0 2
SDHD 0 0 1 1 0 0 2
COL18A1, SLC19A1 1 0 0 0 0 0 1
EGFR 1 0 0 0 0 0 1
GNB4, KCNMB3, MFN1, PIK3CA, ZNF639 0 0 1 0 0 0 1
KLLN, LOC130004273, MLDHR, PTEN 0 0 1 0 0 0 1
LDLR 0 1 0 0 0 0 1
LOC126861339, SDHD 0 0 0 1 0 0 1
USF3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 309 119 12 120 262 0 822
Labcorp Genetics (formerly Invitae), Labcorp 20 3 266 302 19 0 610
Department of Pathology and Laboratory Medicine, Sinai Health System 5 3 21 20 7 0 56
Fulgent Genetics, Fulgent Genetics 13 4 34 4 1 0 56
Counsyl 3 3 24 23 1 0 54
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
OMIM 28 0 2 0 0 0 30
Mendelics 4 3 7 8 2 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 8 0 0 0 0 23
3billion 9 8 5 0 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 10 5 1 0 0 0 16
KCCC/NGS Laboratory, Kuwait Cancer Control Center 3 2 0 5 6 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 2 0 1 0 10
CENTOGENE GmbH and LLC - Guiding Precision Medicine 5 4 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 0 0 0 0 9
MGZ Medical Genetics Center 5 3 1 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 3 4 0 2 0 0 9
Baylor Genetics 5 1 2 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 2 0 0 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 3 1 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Pathway Genomics 4 1 1 0 0 0 6
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 1 0 0 0 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 0 4
Genesis Genomics 0 4 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 0 1 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 1 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 3 0 0 0 4
Variantyx, Inc. 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 3
Dasa 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 1 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 2 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
AlTemaimi Lab, Faculty of Medicine, Kuwait University 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Human Genetics, SALK University Hospital, Paracelsus Medical University Salzburg 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 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 1
Navigene Genetic Science Pvt Ltd 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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