ClinVar Miner

Variants studied for Familial adenomatous polyposis 2

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
238 206 1267 904 31 18 2484

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MUTYH 231 200 1200 862 29 18 2369
MUTYH, TOE1 6 6 62 42 2 0 109
BARD1 0 0 1 0 0 0 1
EIF2B3, HECTD3, HPDL, MUTYH, PTCH2, TOE1, UROD, ZSWIM5 0 0 1 0 0 0 1
HPDL, MUTYH 1 0 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 0 1
RABL3 0 0 1 0 0 0 1
VDR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 206 99 1133 870 25 0 2333
All of Us Research Program, National Institutes of Health 54 31 299 130 7 0 521
Baylor Genetics 46 54 187 0 0 0 287
Counsyl 13 19 68 30 1 0 131
Mendelics 12 4 34 18 4 0 72
Department of Pathology and Laboratory Medicine, Sinai Health System 19 3 25 18 1 0 66
Illumina Laboratory Services, Illumina 6 4 33 6 4 0 53
Revvity Omics, Revvity 22 14 16 0 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 14 0 0 0 0 48
Myriad Genetics, Inc. 16 16 0 1 0 0 33
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 2 26 0 0 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 6 1 0 0 0 23
Molecular Pathology, Peter Maccallum Cancer Centre 6 3 13 0 0 0 22
KCCC/NGS Laboratory, Kuwait Cancer Control Center 6 1 1 6 6 0 20
MGZ Medical Genetics Center 5 1 8 0 0 0 14
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 3 1 0 0 0 12
GeneReviews 2 0 0 0 0 9 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 3 0 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
OMIM 7 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 2 0 0 0 5
Human Genetics Bochum, Ruhr University Bochum 3 1 1 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 1 1 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Molecular Oncology Laboratory, Hospital Clínico San Carlos 1 1 1 0 0 0 3
Variantyx, Inc. 3 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 2
Otogenetics 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 1 0 0 2
Arcensus 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1

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