ClinVar Miner

Variants studied for Familial adenomatous polyposis 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
222 196 1216 850 29 17 2354

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MUTYH 216 190 1149 810 27 17 2242
MUTYH, TOE1 5 6 63 40 2 0 107
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
VDR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 198 93 1079 813 23 0 2206
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 39 6 4 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 14 0 0 0 0 44
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 4 1 18 0 0 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 1 1 6 6 0 19
Myriad Genetics, Inc. 8 9 0 1 0 0 18
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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 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
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
Solve-RD Consortium 0 2 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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