ClinVar Miner

Variants studied for Peutz-Jeghers syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
283 72 1082 975 559 6 2350

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 261 69 969 892 509 6 2138
LOC130062899, STK11 8 2 104 83 49 0 187
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18 4 0 2 0 0 0 6
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
CBARP, STK11 0 0 2 0 0 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
LOC130062895, STK11 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 225 29 793 884 82 0 2013
Myriad Genetics, Inc. 36 12 43 147 481 0 719
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
Counsyl 0 2 59 56 1 0 118
Illumina Laboratory Services, Illumina 0 0 69 7 27 0 103
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 31 36 0 0 69
Mendelics 2 1 21 20 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
Molecular Pathology, Peter Maccallum Cancer Centre 2 0 16 2 0 0 20
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
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Pathway Genomics 2 0 4 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 5 0 0 0 5
3billion 2 0 2 0 0 0 4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 1 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 3 0 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
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
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Dr. Arun Seshachalam & Co, Dr. GVN Cancer Institute 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
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 1 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 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
Zhongshan School of Medicine, Sun Yat-Sen University 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1

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