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
406 65 2194 207 18 1 1 2860

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 405 64 2194 207 18 1 1 2858
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 365 41 2103 115 1 1 0 2625
Counsyl 8 20 208 68 5 0 0 309
Mendelics 10 4 154 26 11 0 0 205
OMIM 33 0 0 0 0 0 0 33
Pathway Genomics 9 0 7 2 2 0 0 20
CSER _CC_NCGL, University of Washington 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
Department of Molecular Diagnostics,Institute of Oncology 2 2 0 0 0 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
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
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
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, 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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