ClinVar Miner

Variants studied for constitutional neutropenia

Included ClinVar conditions (36):
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 not provided total
1255 774 5859 6335 538 99 14108

Gene and significance breakdown #

Total genes and gene combinations: 68
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 601 434 1976 2459 156 10 5279
LYST 116 79 1445 1468 94 44 3106
SLC37A4 112 84 385 375 21 3 910
AP3B1 35 26 366 247 44 1 688
CSF3R 29 11 291 192 25 0 542
VPS45 2 2 143 380 16 0 530
WAS 83 9 139 233 53 1 506
ELANE 41 22 222 127 16 5 420
HAX1 35 14 109 206 6 0 358
TAFAZZIN 45 47 142 141 10 0 358
G6PC3 22 6 125 147 9 5 304
RAB27A 42 16 122 71 26 0 266
GFI1 0 0 142 99 31 1 258
CXCR4 13 3 69 51 8 0 142
JAGN1 8 0 68 35 11 0 116
G6PC3, LOC130060959 14 2 18 33 2 2 67
LOC126806063, LYST 5 4 23 33 1 1 62
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 38
USB1 11 4 6 2 1 23 36
GFI1, LOC129930930 1 0 9 8 2 0 19
DNASE1L1, TAFAZZIN 3 2 5 6 1 0 16
CLPB 5 0 3 1 0 0 9
LOC129932856, LYST 0 0 6 1 1 0 8
SRP54 6 0 0 2 0 3 8
FCHO1 6 0 0 0 0 0 6
HAX1, LOC129931498 0 0 1 1 2 0 4
LAMTOR2 1 0 2 0 0 0 3
LOC113783876, VPS13B 0 0 3 0 0 0 3
AP3D1 0 0 2 0 0 0 2
CLPB, LOC126861258 1 1 0 0 0 0 2
GALR2, SRP68 2 0 0 0 0 0 2
LOC110120801, MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
TCIRG1 1 0 1 0 0 0 2
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BTBD2, C19orf25, CBARP, CFD, CIRBP, CNN2, CSNK1G2, DAZAP1, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, IZUMO4, KISS1R, KLF16, MBD3, MED16, MEX3D, MIDN, MIR1909, MISP, MKNK2, MOB3A, NDUFS7, ONECUT3, PALM, PCSK4, PLK5, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RPS15, SBNO2, SCAMP4, STK11, TCF3, TMEM259, UQCR11, WDR18 0 0 1 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 0 0 1 0 0 0 1
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, HAX1, IL6R, NUP210L, RPS27, SHE, TDRD10, TPM3, UBAP2L, UBE2Q1 1 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 1
ANKRD46, ATP6V1C1, AZIN1, BAALC, COX6C, CTHRC1, DCAF13, DCSTAMP, DPYS, FBXO43, FZD6, GRHL2, KCNS2, KLF10, LRP12, NCALD, NIPAL2, ODF1, OSR2, PABPC1, POLR2K, POP1, RGS22, RIMS2, RNF19A, RRM2B, SLC25A32, SNX31, SPAG1, STK3, UBR5, UBR5-DT, VPS13B, YWHAZ, ZFPM2, ZNF706 0 0 1 0 0 0 1
ANP32E, APH1A, C1orf54, CA14, CIART, MRPS21, PLEKHO1, PRPF3, RPRD2, TARS2, VPS45 0 0 1 0 0 0 1
ARAF, CDK16, CFP, EBP, ELK1, FTSJ1, INE1, JADE3, LINC01560, NDUFB11, PORCN, RBM10, RBM3, RGN, RP2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SYN1, TBC1D25, TIMP1, UBA1, USP11, UXT, WAS, WDR13, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 1
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 0 1 0 0 0 0 1
BRK1, CIDEC, CRELD1, EMC3, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, PRRT3, VHL 0 0 1 0 0 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 1
CIDEC, JAGN1 0 0 1 0 0 0 1
CLPB, LOC130006336 0 0 1 0 0 0 1
CXCR4, DARS1 0 0 1 0 0 0 1
CXCR4, DARS1, LCT, MCM6, MIR128-1, R3HDM1, RAB3GAP1, UBXN4, ZRANB3 0 0 1 0 0 0 1
CXCR4, DARS1, LOC129388923, LOC129934842, LOC129934843, LOC129934844, LOC129934845, LOC129934846, LOC129934847, LOC129934848 0 0 1 0 0 0 1
DIPK1A, EVI5, GFI1, RPL5, SNORD21 0 0 1 0 0 0 1
DPAGT1, H2AX, HMBS, HYOU1, SLC37A4, VPS11 0 0 1 0 0 0 1
ERICH5, POP1, RIDA, VPS13B 0 1 0 0 0 0 1
G6PD 1 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 1
KCNS2, NIPAL2, OSR2, POP1, STK3, VPS13B 0 0 1 0 0 0 1
LOC112469011, USB1 0 0 1 0 0 0 1
LOC126860453, VPS13B 0 1 0 0 0 0 1
LOC130000825, VPS13B 0 0 1 0 0 0 1
MYO7A 0 0 0 0 1 0 1
PIGB, RAB27A 1 0 0 0 0 0 1
SEC61A1 1 0 0 0 0 0 1
SRP19 1 0 0 0 0 0 1
SRPRA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1033 220 4945 6098 461 0 12757
Natera, Inc. 37 13 583 116 83 0 832
Illumina Laboratory Services, Illumina 1 2 588 88 111 0 789
Counsyl 4 237 246 150 0 0 637
Fulgent Genetics, Fulgent Genetics 25 21 174 46 3 0 269
Revvity Omics, Revvity 18 16 174 0 0 0 208
Baylor Genetics 52 98 53 0 0 0 203
OMIM 140 0 0 0 0 0 140
GeneReviews 0 0 0 0 0 84 84
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 70 10 1 0 83
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 35 1 0 0 0 82
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Genome-Nilou Lab 1 4 26 14 24 0 69
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 58
New York Genome Center 1 3 41 0 0 0 45
Mendelics 14 3 5 10 5 0 37
Myriad Genetics, Inc. 4 31 2 0 0 0 37
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 15 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 11 11 0 23
Genomics Facility, Ludwig-Maximilians-Universität München 18 2 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 6 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 5 2 7 2 0 0 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 6 10 0 0 0 16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 9 0 0 0 0 15
3billion 8 2 5 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 8 0 0 0 0 12
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 4 4 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 2 0 4 2 3 0 11
Genetic Services Laboratory, University of Chicago 10 0 0 0 0 0 10
Klein lab, Ludwig-Maximilians-University 10 0 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 6 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 2 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Genetics and Molecular Pathology, SA Pathology 3 0 2 3 1 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 1 1 0 0 0 9
Service de Génétique Moléculaire, Hôpital Robert Debré 1 5 0 2 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 3 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 2 0 0 0 7
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 4 0 1 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 2 0 0 0 7
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 6 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 1 0 0 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 3 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 2 0 0 0 6
Centogene AG - the Rare Disease Company 2 3 0 0 0 0 5
Centre for Human Genetics 2 1 2 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 0 5 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 4 0 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 2 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 3 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 1 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1
University of Washington School of Medicine 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
Medical Genetic Department, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Alergia E Inmunologia Clinica Pediatrica, Hospital Civil Nuevo Dr. Juan I. Menchaca 1 0 0 0 0 0 1

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