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
198 173 1145 775 29 17 2175

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 192 168 1078 738 27 17 2065
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
VDR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 176 78 1029 746 23 0 2052
All of Us Research Program, National Institutes of Health 43 25 253 107 7 0 435
Baylor Genetics 43 50 126 0 0 0 219
Counsyl 13 19 68 30 1 0 131
Mendelics 12 4 34 18 4 0 72
Illumina Laboratory Services, Illumina 6 3 43 6 4 0 62
Revvity Omics, Revvity 18 10 11 0 0 0 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 14 0 0 0 0 38
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
MGZ Medical Genetics Center 5 1 8 0 0 0 14
Myriad Genetics, Inc. 7 5 0 1 0 0 13
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 1 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 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
Arcensus 0 1 0 0 0 0 1

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