ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
624 168 846 541 61 4 2120

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 608 156 823 529 53 4 2061
KLLN, PTEN 8 4 12 3 3 0 27
KLLN, LOC130004273, PTEN 0 1 1 4 3 0 8
LOC130004273, MLDHR, PTEN 0 4 4 3 0 0 8
LOC130004273, PTEN 0 3 4 2 1 0 5
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 2 0 0 0 0 0 2
KLLN, LOC130004273, LOC130004274, MLDHR, 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, MLDHR, 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
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
KLLN, LOC130004273, MLDHR, PTEN 0 0 0 0 1 0 1
LOC130004275, PTEN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 560 76 717 494 30 0 1877
Clingen PTEN Variant Curation Expert Panel, Clingen 70 52 56 35 11 0 224
All of Us Research Program, National Institutes of Health 10 1 90 66 0 0 167
Illumina Laboratory Services, Illumina 1 0 58 5 22 0 86
Mendelics 3 5 15 12 9 0 44
Herman Laboratory, Nationwide Children's Hospital 33 0 0 0 0 0 33
Department of Pathology and Laboratory Medicine, Sinai Health System 1 17 0 4 1 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 5 0 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 0 0 0 0 14
Molecular Pathology, Peter Maccallum Cancer Centre 6 4 3 0 0 0 13
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 3 3 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 2 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 3 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 2 0 0 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 2 1 0 0 0 3
Medical Molecular Genetics, University of Birmingham 3 0 0 0 0 0 3
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 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
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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