ClinVar Miner

Variants studied for Cowden disease

Included ClinVar conditions (17):
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
118 24 326 68 10 1 542

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHD 25 5 120 9 1 0 160
PTEN 67 16 37 24 1 0 141
PIK3CA 14 1 78 20 4 0 117
AKT1 2 0 64 13 3 0 82
SDHB 1 1 12 1 0 1 16
SEC23B 7 1 6 0 1 0 14
KLLN, PTEN 0 0 7 1 0 0 8
RINT1 0 0 2 0 0 0 2
EGFR 1 0 0 0 0 0 1
KLLN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 6 261 34 6 0 344
Counsyl 3 3 24 23 1 0 54
OMIM 39 0 5 0 0 0 44
Mendelics 2 2 21 9 3 0 37
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Fulgent Genetics,Fulgent Genetics 5 1 16 0 0 0 22
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 1 0 0 7
Center for Human Genetics, Inc 2 3 1 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
Baylor Genetics 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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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