ClinVar Miner

Variants studied for familial adenomatous polyposis 1

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
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Gene type:
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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
1933 250 6692 2551 1996 1 1 1 15 11845

Gene and significance breakdown #

Total genes and gene combinations: 14
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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 1917 246 6608 2547 1992 1 1 1 14 11735
APC, LOC129994371 9 2 81 4 3 0 0 0 1 98
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, SRP19 1 0 0 0 0 0 0 0 0 1
GALNT12 0 0 0 0 1 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 1
NTHL1 0 0 1 0 0 0 0 0 0 1
STK11 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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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 1161 82 6432 2380 182 1 0 0 0 10238
Myriad Genetics, Inc. 1245 82 158 258 1854 0 0 0 0 3597
Baylor Genetics 52 45 869 0 0 0 0 0 0 966
Counsyl 8 20 208 68 5 0 0 0 0 309
Mendelics 10 4 124 29 18 0 0 0 0 185
Fulgent Genetics, Fulgent Genetics 16 5 149 10 3 0 0 0 0 183
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 1 8 13 43 0 0 0 0 73
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 65 3 1 0 0 0 0 71
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 8 12 14 7 17 0 0 0 0 57
Department of Pathology and Laboratory Medicine, Sinai Health System 15 0 13 11 3 0 0 0 0 42
OMIM 38 0 0 0 0 0 0 0 0 38
Pathway Genomics 9 0 7 2 2 0 0 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 0 0 18
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 10 7 0 0 0 0 0 0 0 17
MGZ Medical Genetics Center 3 9 4 0 0 0 0 0 0 16
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 13 0 0 0 0 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 7 2 3 0 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 3 2 7 0 0 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 5 0 0 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 6 0 0 0 0 0 0 9
CSER _CC_NCGL, University of Washington 0 0 7 1 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 3 0 0 0 0 0 0 0 8
deCODE genetics, Amgen 0 8 0 0 0 0 0 0 0 8
Molecular Oncology Laboratory, Hospital Clínico San Carlos 2 0 4 0 1 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 6 6
Yale Center for Mendelian Genomics, Yale University 5 0 0 0 0 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 5 5
Human Genetics Bochum, Ruhr University Bochum 1 4 0 0 0 0 0 0 0 5
GeneReviews 0 0 0 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 1 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 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
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 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
New York Genome Center 1 0 0 0 0 0 1 0 0 2
3billion, Medical Genetics 0 1 0 1 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
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 1 0 0 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
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 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
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 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
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 0 0 0 1
Hereditary Gastrointestinal Cancer Registry, University of Utah 0 1 0 0 0 0 0 0 0 1

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