ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
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
279 89 603 147 29 1 1099

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 223 81 310 101 16 0 685
SDHD 25 5 120 9 1 0 160
PIK3CA 14 1 78 20 4 0 117
AKT1 4 0 64 13 3 0 83
KLLN, PTEN 3 0 10 3 4 0 19
SDHB 1 1 12 1 0 1 16
SEC23B 7 1 6 0 1 0 14
KLLN 1 0 1 0 0 0 2
RINT1 0 0 2 0 0 0 2
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
EGFR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 183 36 458 65 12 0 754
ClinGen PTEN Variant Curation Expert Panel 28 30 31 15 7 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 71 32 3 0 106
Mendelics 5 9 39 21 10 0 84
Counsyl 3 3 24 23 1 0 54
OMIM 40 0 5 0 0 0 45
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,Fulgent Genetics 5 1 16 0 0 0 22
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 3 0 0 0 0 7
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 1 1 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 0 3
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 0 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
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
GeneReviews 1 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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