ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (14):
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
508 125 782 477 60 11 1863

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 491 125 755 463 53 8 1803
KLLN, PTEN 8 0 13 3 2 0 24
LOC130004273, PTEN 0 0 10 4 1 1 12
KLLN, LOC130004273, PTEN 0 0 1 5 4 0 9
AKT1 2 0 0 1 0 1 3
LOC130004274, PTEN 0 0 1 1 0 1 3
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
LOC130004275, PTEN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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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
All of Us Research Program, National Institutes of Health 5 1 71 53 0 0 130
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 9 5 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 2 0 10 1 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 7 7
OMIM 3 0 0 0 0 0 3
Medical Molecular Genetics, University of Birmingham 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 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 Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 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 - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 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
GeneReviews 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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