ClinVar Miner

Variants studied for Cowden syndrome

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 not provided total
37 18 279 302 21 1 657

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3CA 19 4 264 296 19 0 602
PTEN 18 14 1 1 0 1 34
SDHB 0 0 9 3 1 0 13
SDHD 0 0 1 1 0 0 2
GNB4, KCNMB3, MFN1, PIK3CA, ZNF639 0 0 1 0 0 0 1
KLLN, PTEN 0 0 0 0 1 0 1
LOC126861339, SDHD 0 0 0 1 0 0 1
LOC129929542, SDHB 0 0 1 0 0 0 1
SDHC 0 0 1 0 0 0 1
USF3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 19 4 265 296 19 0 603
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 7 0 0 0 0 20
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 4 2 0 12
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 0 0 0 6
Mendelics 0 0 5 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 1 0 0 0 4
OMIM 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.