ClinVar Miner

Variants studied for Cowden syndrome 1

Included ClinVar conditions (15):
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
396 166 346 323 33 12 1223

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3CA 19 5 265 287 20 0 595
PTEN 374 161 55 33 13 9 593
SDHB 1 0 10 1 0 1 13
KLLN, PTEN 0 0 9 0 0 0 9
LOC130004273, PTEN 1 0 4 1 0 1 7
KLLN, LOC130004273, PTEN 0 0 1 1 0 0 2
LOC130004274, PTEN 0 0 1 0 0 1 2
EGFR 1 0 0 0 0 0 1
GNB4, KCNMB3, MFN1, PIK3CA, ZNF639 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 4 266 283 19 0 590
Myriad Genetics, Inc. 294 115 12 10 7 0 438
Counsyl 3 3 24 23 1 0 54
Fulgent Genetics, Fulgent Genetics 9 3 25 4 1 0 42
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 5 3 10 8 2 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 7 0 0 0 0 17
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 5 6 0 14
Institute of Human Genetics, University of Leipzig Medical Center 6 3 1 0 0 0 10
MGZ Medical Genetics Center 5 3 1 0 0 0 9
Centogene AG - the Rare Disease Company 5 4 0 0 0 0 9
Baylor Genetics 5 1 2 0 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 1 0 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 3 1 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 1 0 0 0 4
3billion 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
AlTemaimi Lab, Faculty of Medicine, Kuwait University 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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 1
Division of Medical Genetics, University of Washington 0 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 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

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