ClinVar Miner

Variants studied for attenuated familial adenomatous polyposis

Included ClinVar conditions (17):
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 risk factor not provided total
503 134 5351 1620 244 5 4 7697

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
APC 408 63 2187 474 104 1 2 3170
POLE 2 3 1772 593 71 1 0 2415
POLD1 1 2 932 407 56 3 0 1381
MUTYH 85 65 436 136 11 0 1 686
MUTYH, TOE1 0 0 21 10 1 0 0 32
MSH3 4 0 0 0 0 0 1 5
NTHL1 2 0 3 0 0 0 0 5
APC, LOC102467216 0 1 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 1
GALNT12 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 440 71 5207 1446 235 1 0 7399
Counsyl 21 42 377 226 24 0 0 690
Mendelics 17 6 123 6 1 0 0 153
Fulgent Genetics,Fulgent Genetics 16 1 106 1 1 0 0 125
OMIM 53 0 0 0 0 4 0 57
Illumina Clinical Services Laboratory,Illumina 6 3 23 1 1 0 0 34
Department of Pathology and Laboratory Medicine,Sinai Health System 20 3 0 0 0 0 0 23
Integrated Genetics/Laboratory Corporation of America 12 10 0 0 0 0 0 22
Pathway Genomics 9 0 7 2 2 0 0 20
Molecular Oncology Laboratory,Hospital Clínico San Carlos 3 2 12 1 2 0 0 20
GeneReviews 14 0 0 0 1 0 0 15
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 11 0 0 0 0 13
CSER_CC_NCGL; University of Washington Medical Center 1 0 8 1 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 2 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 2 0 0 0 0 0 7
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 5 1 0 0 7
Center for Human Genetics, Inc 2 1 2 0 0 0 0 5
Yale Center for Mendelian Genomics,Yale University 5 0 0 0 0 0 0 5
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 2 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 1 1 1 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 0 0 4
Department of Molecular Diagnostics,Institute of Oncology 2 2 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 2 1 0 0 0 0 0 3
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 3 0 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 0 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 0 0 1

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