ClinVar Miner

Variants studied for classic or attenuated familial adenomatous polyposis

Included ClinVar conditions (33):
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 association established risk allele risk factor not provided total
2397 583 10646 5208 2184 1 1 5 59 19167

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor not provided total
APC 1878 288 6351 2418 1987 1 1 1 14 11323
POLD1 4 3 2389 1739 99 0 0 3 6 4173
MUTYH 197 174 1089 740 27 0 0 0 17 2083
POLE 6 8 471 255 62 0 0 1 6 777
MSH3 198 56 36 4 0 0 0 0 6 296
NTHL1 70 39 144 4 0 0 0 0 8 241
MUTYH, TOE1 5 5 63 37 2 0 0 0 0 105
APC, LOC129994371 9 2 72 4 3 0 0 0 1 89
LOC130009266, POLE 0 1 18 5 1 0 0 0 0 25
DHFR, MSH3 8 0 3 1 2 0 0 0 0 14
AXIN2 5 5 0 0 0 0 0 0 1 11
LOC126807437, MSH3 8 0 0 0 0 0 0 0 0 8
APC, REEP5, SRP19 1 0 1 0 0 0 0 0 0 2
​intergenic 1 1 0 0 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, CDKN2AIPNL, 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, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608 1 0 0 0 0 0 0 0 0 1
APC, DCP2, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
APC, LOC102467216, LOC121079956, LOC123497954, LOC129994371 0 1 0 0 0 0 0 0 0 1
APC, LOC112997553, LOC126807477, LOC129994372, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
APC, LOC112997553, REEP5, SRP19 1 0 0 0 0 0 0 0 0 1
APC, LOC121079956, LOC129994371 1 0 0 0 0 0 0 0 0 1
APC, SRP19 1 0 0 0 0 0 0 0 0 1
BARD1 0 0 1 0 0 0 0 0 0 1
DDX51, EP400, FBRSL1, LRCOL1, MUC8, NOC4L, P2RX2, POLE, PUS1 0 0 1 0 0 0 0 0 0 1
EIF2B3, HECTD3, HPDL, MUTYH, PTCH2, TOE1, UROD, ZSWIM5 0 0 1 0 0 0 0 0 0 1
GALNT12 0 0 0 0 1 0 0 0 0 1
HPDL, MUTYH 1 0 0 0 0 0 0 0 0 1
KCNC3, MYH14, NAPSA, NR1H2, POLD1 0 0 1 0 0 0 0 0 0 1
LOC130058209, NTHL1 0 0 1 0 0 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 0 0 0 0 1
LOC130064984, POLD1 0 0 0 1 0 0 0 0 0 1
LOC130064985, LOC130064986, POLD1 0 0 1 0 0 0 0 0 0 1
NTHL1, TSC2 0 0 1 0 0 0 0 0 0 1
STK11 0 1 0 0 0 0 0 0 0 1
VDR 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1257 162 9566 4741 296 1 0 0 0 16023
Myriad Genetics, Inc. 1531 158 180 273 1858 0 0 0 0 4000
All of Us Research Program, National Institutes of Health 71 31 1266 540 20 0 0 0 0 1928
Baylor Genetics 109 125 1364 0 0 0 0 0 0 1598
Counsyl 21 42 377 226 24 0 0 0 0 690
Mendelics 23 9 190 108 23 0 0 0 0 353
Fulgent Genetics, Fulgent Genetics 29 5 230 48 7 0 0 0 0 319
KCCC/NGS Laboratory, Kuwait Cancer Control Center 13 1 20 62 146 0 0 0 0 242
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 7 2 203 4 1 0 0 0 0 217
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 88 52 0 0 0 0 0 0 0 140
Department of Pathology and Laboratory Medicine, Sinai Health System 48 0 29 28 12 0 0 0 0 117
MGZ Medical Genetics Center 11 11 42 0 0 0 0 0 0 64
Illumina Laboratory Services, Illumina 7 4 41 6 4 0 0 0 0 62
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 8 12 14 7 17 0 0 0 0 57
OMIM 51 0 0 0 0 0 0 4 0 55
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 30 15 1 0 0 0 0 0 0 46
Revvity Omics, Revvity 19 11 13 0 0 0 0 0 0 43
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 37 37
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 3 19 0 0 0 0 0 0 32
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 17 10 0 0 0 0 0 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 4 1 20 0 0 0 0 0 0 25
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 10 2 7 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 9 1 0 0 0 0 0 20
Pathway Genomics 9 0 7 2 2 0 0 0 0 20
Molecular Oncology Laboratory, Hospital Clínico San Carlos 3 2 12 1 2 0 0 0 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 9 4 5 1 0 0 0 0 0 19
CSER _CC_NCGL, University of Washington 1 0 12 3 0 0 0 0 0 16
GeneReviews 2 0 0 0 0 0 0 0 13 15
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 12 0 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 7 3 4 0 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 14 14
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 13 0 0 0 0 0 0 0 0 13
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 10 1 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 4 1 4 2 0 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 6 5 0 0 0 0 0 0 0 11
Human Genetics Bochum, Ruhr University Bochum 5 5 1 0 0 0 0 0 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 0 0 0 10
Division of Medical Genetics, University of Washington 2 1 7 0 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 6 0 0 0 0 0 0 9
deCODE genetics, Amgen 1 8 0 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 6 0 0 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 1 0 0 0 0 0 1 0 8
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus 8 0 0 0 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 2 0 0 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 1 1 3 0 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 0 0 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 0 0 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 1 2 0 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 1 0 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 0 0 0 3
New York Genome Center 1 0 1 0 0 0 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 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 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 0 2
3billion 0 1 0 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 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 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 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 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 0 0 1
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 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 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 0 0 1
Laboratorio de Investigacion Basica Clinica, Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 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 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 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 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 1
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 0 0 0 1

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