ClinVar Miner

Variants studied for Cowden syndrome 1

Included ClinVar conditions (8):
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
72 16 115 70 11 1 281

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 66 15 37 24 1 0 139
PIK3CA 4 0 57 43 10 0 114
SDHB 1 1 12 1 0 1 16
KLLN, PTEN 0 0 7 1 0 0 8
RINT1 0 0 2 1 0 0 3
EGFR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 59 44 10 0 117
Counsyl 3 3 24 23 1 0 54
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
OMIM 28 0 2 0 0 0 30
Fulgent Genetics 4 1 14 0 0 0 19
Mendelics 1 1 12 0 0 0 14
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 Miraca Genetics Laboratories, 2 0 0 0 0 0 2
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 Medical Center 0 0 1 1 0 0 2
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
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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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