ClinVar Miner

Variants studied for Peutz-Jeghers syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
267 68 1049 902 116 6 2157

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STK11 246 65 936 825 105 6 1954
LOC130062899, STK11 7 2 102 76 10 0 175
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18 4 0 2 0 0 0 6
CBARP, STK11 0 0 3 1 0 0 4
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, LOC130062899, STK11 2 0 2 0 0 0 4
LOC110006318, STK11 2 1 1 0 0 0 4
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 2 0 0 0 3
LOC130062895, STK11 0 0 1 0 1 0 2
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, BSG, C2CD4C, CBARP, CDC34, CFD, CIMAP1D, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GPX4, GRIN3B, GZMM, HCN2, KISS1R, MADCAM1, MED16, MIDN, MIER2, MISP, PALM, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126, SBNO2, SHC2, SPMAP2, STK11, TMEM259, TPGS1, WDR18 1 0 0 0 0 0 1
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062894, LOC130062895, LOC130062896, LOC130062897, LOC130062898, LOC130062899, STK11 1 0 0 0 0 0 1
LOC110006317, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 0 0 0 0 1
LOC110006318, LOC130062899, STK11 1 0 0 0 0 0 1
LOC130062894, LOC130062895, STK11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 210 27 772 841 69 0 1919
Genome-Nilou Lab 30 13 350 104 8 0 505
All of Us Research Program, National Institutes of Health 1 0 215 193 3 0 412
Myriad Genetics, Inc. 33 11 46 21 31 0 142
Illumina Laboratory Services, Illumina 0 0 83 11 27 0 121
Counsyl 0 2 59 56 1 0 118
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 31 36 0 0 69
Mendelics 2 1 22 19 4 0 48
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 7 22 0 29
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 21 4 0 0 0 0 25
OMIM 15 0 1 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 0 16
MGZ Medical Genetics Center 2 1 12 0 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 13 0 0 0 13
Pathway Genomics 2 0 4 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 3 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Zhongshan School of Medicine, Sun Yat-Sen University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 1 0 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 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
deCODE genetics, Amgen 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Dr. Arun Seshachalam & Co, Dr. GVN Cancer Institute 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 1 0 0 0 0 1
Arcensus 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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