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
60 10 39 32 3 140

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 58 9 34 23 1 121
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: 19
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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
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 1 0 0 6
Pathway Genomics 4 1 1 0 0 6
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
Baylor Genetics 1 0 0 0 0 1
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 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

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