ClinVar Miner

Variants studied for Familial adenomatous polyposis 1

Coded as:
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Gene type:

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 association not provided total
2004 278 7020 2685 2001 1 10 12356

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
APC 1988 274 6932 2681 1998 1 9 12243
APC, LOC129994371 9 2 85 4 3 0 1 102
APC, REEP5, SRP19 1 0 1 0 0 0 0 2
​intergenic 1 1 0 0 0 0 0 1
ABLIM3, ACSL6, ADAMTS19, ADGRV1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF37, ARL14EPL, ARRDC3, ARSI, ARSK, ATG12, ATOX1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CAST, CATSPER3, CCDC112, CCDC69, CCNH, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDO1, CDX1, CEP120, CETN3, CHD1, CHSY3, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CXCL14, CXXC5, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, ELL2, EPB41L4A, ERAP1, ERAP2, ETF1, FAM114A2, FAM13B, FAM170A, FAM174A, FAM53C, FAM81B, FAT2, FBN2, FBXL17, FBXO38, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GFRA3, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GPR150, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRGM, ISOC1, JADE2, JAKMIP2, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LIX1, LMNB1, LNPEP, LOX, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAN2A1, MARCHF3, MATR3, MBLAC2, MCC, MCTP1, MEF2C, MEGF10, MFAP3, MINAR2, MIR143, MIR145, MIR378A, MIR9-2, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDUFA2, NEUROG1, NME5, NMUR2, NR2F1, NR3C1, NREP, NRG2, NUDT12, P4HA2, PAIP2, PAM, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PRDM6, PRELID2, PROB1, PRR16, PRRC1, PSD2, PURA, RAD50, RAPGEF6, RASA1, RBM22, RBM27, REEP2, REEP5, RELL2, RFESD, RGMB, RHOBTB3, RIOK2, RNF14, RPS14, SAP30L, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEPTIN8, SH3RF2, SH3TC2, SHROOM1, SIL1, SKIC3, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM3, SNCAIP, SNHG4, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPATA9, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, STING1, STK32A, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, XTBD1, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608 1 0 0 0 0 0 0 1
APC, DCP2, REEP5, SRP19 1 0 0 0 0 0 0 1
APC, LOC102467216, LOC121079956, LOC123497954, LOC129994371 0 1 0 0 0 0 0 1
APC, LOC112997553, LOC126807477, LOC129994372, REEP5, SRP19 1 0 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 1
APC, SRP19 1 0 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 1
NTHL1 0 0 1 0 0 0 0 1
STK11 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1229 84 6770 2509 185 1 0 10778
Myriad Genetics, Inc. 1270 82 146 287 1859 0 0 3644
Baylor Genetics 52 45 869 0 0 0 0 966
Counsyl 8 20 208 68 5 0 0 309
Mendelics 10 4 117 33 18 0 0 182
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 20 33 27 7 17 0 0 103
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 1 8 13 55 0 0 85
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 76 3 1 0 0 82
Molecular Pathology, Peter Maccallum Cancer Centre 25 3 37 9 2 0 0 76
Department of Pathology and Laboratory Medicine, Sinai Health System 16 0 16 15 3 0 0 50
OMIM 30 0 0 0 0 0 0 30
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 8 6 7 1 0 0 0 22
Pathway Genomics 9 0 7 2 2 0 0 20
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 18 0 0 0 0 0 0 18
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 10 7 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 11 3 3 0 0 0 0 17
MGZ Medical Genetics Center 3 9 4 0 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 6 1 0 0 0 13
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 13 0 0 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 3 2 7 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 5 0 0 0 0 11
CSER _CC_NCGL, University of Washington 0 0 7 1 0 0 0 8
deCODE genetics, Amgen 0 8 0 0 0 0 0 8
Programa de cancer hereditario, Instituto de medicina traslacional e ingenieria biomedica, Hospital Italiano de Buenos Aires 0 7 0 0 0 0 0 7
Molecular Oncology Laboratory, Hospital Clínico San Carlos 2 0 4 0 0 0 0 6
Human Genetics Bochum, Ruhr University Bochum 1 4 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 0 5
3billion 2 2 0 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 0 0 4
University of Washington Department of Laboratory Medicine, University of Washington 1 3 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 0 0 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 2 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 0 1 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 1 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 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
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Helix 0 0 1 0 0 0 0 1
Hereditary Gastrointestinal Cancer Registry, University of Utah 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Laboratorio de Investigacion Basica Clinica, Universidad Autonoma de Nuevo Leon 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
Laboratory of Human Molecular Genetics, Federal University of Alagoas 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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