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
32 18 274 285 19 1 628

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 not provided total
PIK3CA 18 4 265 283 19 0 589
PTEN 14 14 1 1 0 1 30
SDHB 0 0 7 1 0 0 8
GNB4, KCNMB3, MFN1, PIK3CA, ZNF639 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 4 266 283 19 0 590
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 7 0 0 0 0 17
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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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