ClinVar Miner

Variants studied for Cowden disease

Included ClinVar conditions (29):
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
896 296 1673 1522 158 17 4338

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 708 257 783 473 57 14 2091
PIK3CA 27 6 270 288 20 0 608
SDHD 67 13 259 142 7 0 488
AKT1 3 0 205 245 26 0 475
SEC23B 41 17 57 286 31 0 428
LOC126861339, SDHD 16 2 44 33 2 0 96
LOC126862987, SEC23B 12 1 7 41 7 0 67
KLLN, PTEN 8 0 19 3 2 0 29
LOC130004273, PTEN 1 0 11 4 1 1 13
KLLN, LOC130004273, PTEN 0 0 1 5 5 0 9
SDHB 0 0 7 1 0 1 9
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 3 0 1 0 0 0 4
LOC130004274, PTEN 0 0 1 1 0 1 3
KLLN 1 0 1 0 0 0 2
KLLN, LOC130004271 0 0 2 0 0 0 2
KLLN, LOC130004273, LOC130004274, PTEN 1 0 1 0 0 0 2
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
AKT1, ZBTB42 0 0 1 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS 1 0 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, PTEN, RNLS 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, LOC130004270 0 0 1 0 0 0 1
LOC130004275, PTEN 1 0 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 613 110 1444 1451 116 0 3734
Myriad Genetics, Inc. 295 116 12 10 7 0 440
Clingen PTEN Variant Curation Expert Panel, Clingen 55 43 54 30 10 0 192
Illumina Laboratory Services, Illumina 1 0 98 11 23 0 133
All of Us Research Program, National Institutes of Health 5 1 71 53 0 0 130
Mendelics 7 9 28 21 14 0 79
Counsyl 3 3 24 23 1 0 54
Fulgent Genetics, Fulgent Genetics 14 3 28 7 1 0 53
OMIM 39 0 5 0 0 0 44
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Herman Laboratory, Nationwide Children's Hospital 33 0 0 0 0 0 33
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 9 21 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 8 0 0 0 0 18
Baylor Genetics 7 1 8 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 0 3 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 0 0 0 0 14
MGZ Medical Genetics Center 7 3 1 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 7 3 1 0 0 0 11
GenomeConnect - Brain Gene Registry 0 0 0 0 0 10 10
Centogene AG - the Rare Disease Company 5 4 0 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 2 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 3 1 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 4 2 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 0 0 0 5
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
3billion 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 0 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Revvity Omics, Revvity 0 0 3 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
Medical Molecular Genetics, University of Birmingham 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 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
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 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
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
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
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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