ClinVar Miner

Variants studied for Cowden syndrome 1

Coded as:
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 total
64 16 45 32 3 156

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTEN 62 15 40 23 1 137
PIK3CA 1 1 1 8 2 13
KLLN, PTEN 0 0 4 1 0 5
EGFR 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 3 3 24 23 1 54
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 34
OMIM 26 0 0 0 0 26
Mendelics 1 1 1 8 2 13
Baylor Genetics 3 1 2 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 1 0 0 6
Pathway Genomics 4 1 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 4
Genetic Services Laboratory,University of Chicago 1 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 1 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 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 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 1

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