ClinVar Miner

Variants studied for Cowden disease

Included ClinVar conditions (18):
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
148 46 545 255 42 1 1026

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHD 46 13 189 58 4 0 309
PIK3CA 15 2 146 71 13 0 247
AKT1 2 0 124 87 12 0 222
PTEN 71 30 46 24 1 0 167
SEC23B 9 1 19 13 12 0 52
SDHB 1 0 10 1 0 1 13
KLLN, PTEN 0 0 8 1 0 0 9
ALG9, BTG4, C11orf1, C11orf52, COLCA2, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, LOC728196, MIR34B, MIR34C, NKAPD1, PIH1D2, POU2AF1, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 1 0 0 0 2
RINT1 0 0 2 0 0 0 2
EGFR 1 0 0 0 0 0 1
KLLN 1 0 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 15 470 224 38 0 810
Counsyl 3 3 24 23 1 0 54
OMIM 39 0 5 0 0 0 44
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Mendelics 2 1 17 9 3 0 32
Fulgent Genetics,Fulgent Genetics 5 1 16 0 0 0 22
Baylor Genetics 5 1 7 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 4 5 0 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 3 3 0 1 0 0 7
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 3 1 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 1 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 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
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 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
Illumina Clinical Services Laboratory,Illumina 0 0 1 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 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 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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