ClinVar Miner

Variants studied for PTEN hamartoma tumor 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
502 122 753 469 60 3 1822

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 487 122 730 456 53 3 1770
KLLN, PTEN 8 0 11 3 2 0 22
LOC130004273, PTEN 0 0 9 4 1 0 11
KLLN, LOC130004273, PTEN 0 0 1 5 4 0 9
KLLN, LOC130004273, LOC130004274, PTEN 1 0 1 0 0 0 2
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS 1 0 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, PTEN, RNLS 1 0 0 0 0 0 1
KLLN, LOC130004270 0 0 1 0 0 0 1
LOC130004274, PTEN 0 0 0 1 0 0 1
LOC130004275, PTEN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 455 74 614 425 29 0 1597
Clingen PTEN Variant Curation Expert Panel, Clingen 55 43 54 30 10 0 192
Illumina Laboratory Services, Illumina 1 0 97 11 23 0 132
Mendelics 3 6 16 12 9 0 46
Herman Laboratory, Nationwide Children's Hospital 33 0 0 0 0 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 4 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 0 0 0 0 7
Medical Molecular Genetics, University of Birmingham 3 0 0 0 0 0 3
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 2 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.