ClinVar Miner

Variants studied for familial hemolytic anemia

Included ClinVar conditions (77):
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 established risk allele likely pathogenic, low penetrance not provided total
721 735 2232 1738 533 1 1 43 5577

Gene and significance breakdown #

Total genes and gene combinations: 85
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely pathogenic, low penetrance not provided total
PFKM 49 93 170 553 41 0 0 1 865
G6PD 122 183 129 278 30 1 0 2 665
ANK1 74 109 267 74 59 0 0 0 547
SEC23B 53 31 96 314 35 0 0 0 497
SPTA1 32 19 206 66 55 0 0 0 305
SLC4A1 38 28 198 34 29 0 0 1 303
CDAN1 16 20 183 39 21 0 0 2 262
MTTP 20 69 116 28 38 0 0 5 257
ALDOA, LOC112694756 6 5 110 122 11 0 0 1 240
SLC2A1 10 3 77 50 30 0 0 0 167
SPTB 56 41 27 3 16 0 0 1 142
PKLR 24 27 70 4 4 0 0 0 123
EPB42 7 8 81 15 7 0 0 6 107
GPI 21 12 39 8 6 0 0 0 79
LOC126862987, SEC23B 13 4 7 47 7 0 0 0 74
TPI1 8 3 42 10 12 0 0 0 70
PIEZO1 10 7 18 11 22 0 1 0 68
EPB41 5 10 30 9 7 0 0 1 60
UROS 22 1 21 5 8 0 0 9 57
APOB 21 0 25 1 0 0 0 0 47
NT5C3A 12 1 21 6 7 0 0 0 47
G6PD, IKBKG 2 6 19 9 2 0 0 0 38
GSR 3 2 24 3 3 0 0 0 35
AK1, ST6GALNAC4-ST6GALNAC6-AK1 8 1 12 7 7 0 0 0 34
GATA1 10 5 12 2 0 0 0 11 32
HSALR1, PIEZO1 4 1 11 5 12 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 32
KIF23 2 0 25 1 0 0 0 0 28
KLF1 3 1 8 1 12 0 0 0 25
HK1 7 4 5 1 7 0 0 0 24
ATP11C 2 1 20 0 0 0 0 0 22
KCNN4 4 2 17 1 0 0 0 0 22
CDAN1, LOC130056931 0 1 11 4 4 0 0 0 19
OR10Z1, SPTA1 0 0 16 2 3 0 0 0 19
RHAG 15 2 2 0 1 0 0 1 19
ANK1, LOC124153154 1 7 4 4 5 0 0 0 18
CDIN1 2 4 7 0 6 0 0 2 17
ANK1, LOC126860368 2 4 8 1 1 0 0 0 16
ANK1, LOC126860369 6 5 4 0 1 0 0 0 15
CD59 3 5 3 0 0 0 0 0 11
KLF1, LOC117125591 6 1 2 0 2 0 0 0 11
HCN3, PKLR 0 0 9 0 1 0 0 0 10
GSR, LOC130000170 0 1 4 1 4 0 0 0 9
KLF1, LOC130063673 1 0 5 0 3 0 0 0 9
ABCB6 3 1 2 2 1 0 0 0 8
BPGM 4 0 3 0 0 0 0 0 7
COX4I2 1 0 4 1 1 0 0 0 7
LOC126807124, MTTP 0 1 4 1 2 0 0 0 6
MIR6505, PFKM 0 1 0 5 0 0 0 0 6
ANK1, LOC130000286 0 1 1 2 1 0 0 0 5
LOC130065472, SEC23B 0 0 4 0 1 0 0 0 5
CDAN1, LOC130056933 0 0 4 0 0 0 0 0 4
CASK 1 1 0 1 0 0 0 0 3
HSALR1, LOC130059751, PIEZO1 0 0 0 1 2 0 0 0 3
PLEKHG3, SPTB 0 0 3 0 0 0 0 0 3
WDR72 3 0 0 0 0 0 0 0 3
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 2
CDAN1, LOC130056932 0 0 1 1 0 0 0 0 2
G6PD, IKBKG, LOC107181288 1 0 0 0 1 0 0 0 2
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 1 0 0 0 0 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 0 0 2
IRAK4 0 1 1 0 0 0 0 0 2
KLF1, LOC117125592 0 0 0 1 1 0 0 0 2
RACGAP1 2 0 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, 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, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 1
ABCG5, ABCG8 0 0 1 0 0 0 0 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 1
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133 1 0 0 0 0 0 0 0 1
C3 0 0 1 0 0 0 0 0 1
CCBE1 0 0 1 0 0 0 0 0 1
CD46 0 0 1 0 0 0 0 0 1
CDIN1, LOC130056772 0 0 0 0 1 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 0 0 1
GCDH, KLF1, LOC117125594 1 0 0 0 0 0 0 0 1
KCNN4, LOC128598884 0 0 1 0 0 0 0 0 1
LOC126862501, MYH2, MYHAS 0 0 1 0 0 0 0 0 1
LOC129930369, SLC2A1 0 0 0 1 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 0 0 1
SLC2A1, SLC2A1-DT 0 0 0 0 1 0 0 0 1
UBE2Q2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 144
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 159 65 369 1295 91 0 0 0 1979
Illumina Laboratory Services, Illumina 8 3 890 185 234 0 0 0 1253
Revvity Omics, Revvity 49 124 410 7 1 0 0 0 591
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 38 8 156 146 131 0 0 0 479
Fulgent Genetics, Fulgent Genetics 57 86 162 56 7 0 0 0 368
Genome-Nilou Lab 1 0 78 54 178 0 0 0 311
Dunham Lab, University of Washington 102 152 24 10 14 0 0 0 302
OMIM 252 0 0 0 0 0 0 0 252
Natera, Inc. 8 7 72 25 34 0 0 0 146
Neuberg Centre For Genomic Medicine, NCGM 18 32 57 0 0 0 0 0 107
Baylor Genetics 18 46 36 0 0 0 0 0 100
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 59 13 0 0 0 0 0 0 72
Myriad Genetics, Inc. 1 70 0 0 0 0 0 0 71
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 13 27 28 1 0 0 0 0 69
Mendelics 34 3 6 3 6 0 0 0 52
3billion, Medical Genetics 8 19 15 1 0 0 0 0 43
Juno Genomics, Hangzhou Juno Genomics, Inc 20 13 7 0 0 0 0 0 40
GeneReviews 2 0 0 0 0 0 0 35 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 4 8 0 0 0 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 13 0 0 0 0 0 0 35
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 15 12 7 1 0 0 0 0 35
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 14 5 1 0 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 4 6 7 0 0 0 0 0 17
Pars Genome Lab 0 0 1 1 15 0 0 0 17
New York Genome Center 2 1 12 0 0 1 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 6 0 1 0 0 0 14
Department of Haematogenetics, ICMR National Institute of Immunohaematology 5 6 2 0 0 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 3 6 2 1 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 8 0 0 0 12
Lifecell International Pvt. Ltd 8 3 1 0 0 0 0 0 12
Centogene AG - the Rare Disease Company 4 2 5 0 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 2 1 4 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 6 2 0 0 0 0 0 11
MGZ Medical Genetics Center 8 1 1 0 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 9 0 0 0 10
Counsyl 6 1 1 2 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 5 0 0 0 0 0 0 9
MVZ Dr. Eberhard & Partner Dortmund 3 5 1 0 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 2 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 5 2 0 1 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 0 0 7
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 1 1 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 3 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 1 1 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 2 0 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 2 0 0 0 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 2 1 0 0 0 0 0 6
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 6 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 3 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 0 1 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 0 0 0 1 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 3 1 0 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 4 1 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 2 2 0 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 2 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 1 0 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 1 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 3
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 3 0 0 0 0 0 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 0 1 0 1 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 0 0 2
BloodGenetics 2 0 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 0 2
Institute of Medical Genetics, University of Zurich 2 0 0 0 0 0 0 0 2
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 1 0 1 0 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Suma Genomics 1 0 1 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 1 1 0 0 0 0 0 0 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 0 2
Department of Emergency, The First Affiliated Hospital of Army Medical University 2 0 0 0 0 0 0 0 2
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 2 0 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 0 0 2
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University 0 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 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 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 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 1
Molecular Genetic Center, Genetaq 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 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 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 0 0 1
Department of Hematology, 303rd Hospital of the People's Liberation Army 1 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 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 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 0 1
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 1
Research Laboratory of Clinical Virology, Ruijin Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Siriraj Genomics, Faculty of Medicine Siriraj Hospital 1 0 0 0 0 0 0 0 1
Digital Health - Machine Learning, Hasso Plattner Institute 0 0 0 0 0 0 1 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.