ClinVar Miner

Variants studied for Familial adenomatous polyposis 2

Coded as:
Minimum submission review status: Collection method:
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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
202 176 1155 775 29 17 2191

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 196 170 1088 738 27 17 2080
MUTYH, TOE1 5 5 63 37 2 0 105
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
PHKG2 0 1 0 0 0 0 1
VDR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 78 1030 746 23 0 2056
All of Us Research Program, National Institutes of Health 43 25 253 107 7 0 435
Baylor Genetics 46 54 187 0 0 0 287
Counsyl 13 19 68 30 1 0 131
Mendelics 12 3 35 18 4 0 72
Illumina Laboratory Services, Illumina 7 4 41 6 4 0 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 15 0 0 0 0 40
Revvity Omics, Revvity 18 10 11 0 0 0 39
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 6 1 0 0 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 16 0 0 0 18
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 0 1 6 6 0 18
Myriad Genetics, Inc. 7 7 0 1 0 0 15
MGZ Medical Genetics Center 5 1 8 0 0 0 14
GeneReviews 2 0 0 0 0 9 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 3 3 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 3 0 0 0 8
OMIM 7 0 0 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 1 0 0 0 6
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 1 1 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
Molecular Oncology Laboratory, Hospital Clínico San Carlos 1 1 1 0 0 0 3
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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
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
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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