ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (19):
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
230 72 498 262 48 1 1063

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
PTEN 189 66 277 143 15 0 647
SDHD 15 3 91 24 4 0 136
PIK3CA 11 1 57 43 10 0 122
AKT1 3 0 48 47 11 0 107
KLLN, PTEN 3 0 9 2 4 0 17
SDHB 1 1 12 1 0 1 16
SEC23B 6 1 2 1 4 0 13
RINT1 0 0 2 1 0 0 3
EGFR 1 0 0 0 0 0 1
KLLN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 134 30 365 207 40 0 776
Illumina Clinical Services Laboratory,Illumina 0 0 71 32 3 0 106
ClinGen PTEN Variant Curation Expert Panel 19 22 14 13 6 0 74
Counsyl 3 3 24 23 1 0 54
OMIM 40 0 5 0 0 0 45
Mendelics 1 2 34 0 0 0 37
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Herman Laboratory,Nationwide Children's Hospital 33 0 0 0 0 0 33
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 1 0 0 3
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 0 0 1
GeneReviews 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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