ClinVar Miner

Variants studied for Familial adenomatous polyposis 1

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 risk factor not provided total
319 60 1732 474 104 1 1 2629

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
APC 318 59 1732 474 104 1 1 2627
APC, LOC102467216 0 1 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 273 34 1658 429 103 1 0 2498
Counsyl 8 20 208 68 5 0 0 309
Mendelics 6 3 93 5 1 0 0 108
OMIM 33 0 0 0 0 0 0 33
Pathway Genomics 9 0 7 2 2 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 4 0 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 0 0 0 0 0 8
CSER_CC_NCGL; University of Washington Medical Center 0 0 7 1 0 0 0 8
Molecular Oncology Laboratory,Hospital Clínico San Carlos 2 0 4 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 5 0 0 0 0 0 0 5
GeneReviews 3 0 0 0 1 0 0 4
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 3 0 0 0 0 0 0 3
Department of Molecular Diagnostics,Institute of Oncology 1 2 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 0 0 1

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