ClinVar Miner

Variants studied for cerebral organic aciduria

Included ClinVar conditions (103):
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 not provided total
2039 1263 4758 2299 1153 30 10422

Gene and significance breakdown #

Total genes and gene combinations: 134
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAH 385 331 230 92 25 3 845
GLDC 138 166 292 220 48 0 742
CBS 74 81 200 141 30 2 461
BTD 220 73 123 52 19 3 376
HLCS 32 37 165 107 42 0 352
TH 28 48 157 123 17 1 327
ALDH5A1 31 4 186 59 35 2 302
GCDH 96 99 84 70 11 0 299
CYP27A1 78 42 100 106 21 1 291
ABAT 15 1 175 52 55 1 287
SLC6A8 40 6 65 101 54 9 266
GAMT 32 13 129 75 7 4 243
ADSL 28 12 165 31 8 0 232
OTC 87 41 51 37 16 0 221
AMT 41 40 99 62 8 0 219
DLD 24 33 71 80 28 0 209
MOCS1 7 7 145 28 27 0 203
CLPB 29 3 111 50 14 0 200
MTRR 31 8 42 94 29 0 198
ACADSB 11 8 118 21 39 0 187
PHGDH 22 11 64 71 14 0 166
ATP6V0A2 13 1 99 9 42 0 163
D2HGDH 11 2 104 19 37 0 161
GCH1 50 5 70 15 28 0 159
PDHA1 52 14 32 38 28 0 155
GATM 7 0 102 31 14 0 151
MAT1A 13 4 95 11 24 0 143
GPHN 12 6 72 39 8 0 136
LIAS 12 4 95 19 6 0 133
SUOX 17 12 87 17 10 0 130
ALDH4A1 5 4 94 17 33 0 129
ASPA, SPATA22 30 52 42 26 3 0 124
MTR 20 4 56 18 20 0 115
HCFC1 6 0 48 31 29 0 113
PDHB 11 0 44 36 13 0 98
PDHX 12 3 39 8 31 1 92
MMADHC 18 4 34 27 15 0 90
PSAT1 7 1 54 12 9 0 81
PSPH 3 1 46 13 20 0 79
AMACR, C1QTNF3-AMACR 2 0 56 11 11 0 78
HADH 9 1 55 14 13 0 78
SERAC1 17 7 33 7 13 0 71
MOCS2 10 2 40 5 8 0 63
AHCY 2 0 44 15 10 0 61
PRODH 9 1 35 10 13 0 60
ALDH5A1, GPLD1 3 0 33 17 3 0 56
GCSH 1 1 38 10 7 0 56
IBA57 14 5 23 9 4 0 53
L2HGDH 18 1 21 8 5 0 52
TPI1 8 0 26 6 11 0 50
SPR 10 2 32 0 4 0 48
NFU1 4 3 28 3 8 0 44
IDH2 3 2 17 11 11 0 43
DLAT 4 1 17 13 7 0 40
HIBCH 13 9 12 5 7 0 40
ADK 2 2 21 5 5 0 35
GCDH, SYCE2 5 4 19 9 2 0 34
ITGA2, MOCS2 0 0 5 15 15 0 34
SLC6A9 4 0 12 9 7 0 32
AMT, NICN1 5 6 18 5 1 0 31
BCKDK 3 1 17 7 3 0 31
MAP3K15, PDHA1 0 0 11 1 18 0 30
DAAM2, MOCS1 0 0 15 4 4 0 23
MAOA 6 1 8 4 4 0 23
PGK1 14 1 5 1 0 0 20
BOLA3 4 0 15 1 0 0 19
GCDH, LOC117125594 1 2 10 6 1 0 19
ABHD14A-ACY1, ACY1 8 1 11 0 0 0 18
HSD17B10 9 5 4 0 0 0 18
APIP, PDHX 0 0 5 2 6 0 13
LIAS, LOC112939935 0 0 9 4 0 0 13
SLC6A19 7 0 6 0 0 0 13
TIMM50 9 0 3 0 0 0 12
ALDH4A1, LOC120893116 0 0 7 2 3 0 11
PCDH19 0 10 1 0 0 0 11
SLC1A4 8 2 1 0 0 0 11
SLC25A1 7 2 4 0 0 0 11
​intergenic 7 2 1 0 0 0 10
ASPA 7 2 1 0 0 0 10
PMPCB 5 0 5 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
LOC111982876, MAT1A 0 0 5 1 3 0 9
MECR 7 0 2 0 0 2 9
GAMT, NDUFS7 1 0 0 3 4 0 8
PDP1 3 0 4 0 1 0 8
UROC1 4 0 3 1 0 0 8
INS, INS-IGF2, TH 0 0 0 2 5 0 7
MYO5A 3 0 2 0 2 0 7
ALDH18A1 3 0 2 0 0 1 6
DHFR, MSH3 0 0 0 0 6 0 6
DMAC2L, L2HGDH 0 0 2 1 2 0 5
GLDC, LOC113839554 3 1 1 0 0 0 5
ISCA2 3 1 2 0 0 0 5
HTRA2 2 0 2 0 0 0 4
INS, TH 0 0 1 3 2 0 4
MMADHC, MMADHC-DT 0 0 3 1 0 0 4
MPC1 2 1 1 0 0 0 4
ABAT, PMM2, TMEM186 0 0 3 0 0 0 3
ADK, LOC102723439 1 0 0 0 2 0 3
CYB5R3 2 1 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 3
HSERVPRODH, PRODH 2 0 1 0 0 0 3
DGCR6, PRODH 1 0 1 0 0 0 2
DHFR 2 0 0 0 0 0 2
DLAT, PIH1D2 1 0 1 0 0 0 2
HTRA2, LOXL3 2 0 0 0 0 0 2
ISCA1 2 0 0 0 0 0 2
ABAT, C16orf72, CARHSP1, GRIN2A, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, KISS1R, MED16, MIDN, MISP, NDUFS7, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, SBNO2, STK11, TMEM259, WDR18 0 0 1 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 1
ALDH4A1, MIR4695 0 0 0 1 0 0 1
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 1
ARMC5, BCKDK, BCL7C, CCDC189, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
ASPA, CTNS, SHPK, TRPV1, TRPV3 1 0 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 1
ATP6V0A2, TCTN2 0 0 0 0 1 0 1
B2M, BLOC1S6, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, PATL2, SHF, SLC28A2, SLC30A4, SORD, SPATA5L1, SPG11, TERB2, TRIM69 0 0 1 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 1
GCH1, MIR4308 0 0 1 0 0 0 1
GJB1 0 0 1 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 0 1
KYNU 1 0 0 0 0 0 1
L2HGDH, LINC01588, LINC01599, LOC100506499, SOS2, VCPKMT 1 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 1
PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 140
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1015 239 2159 1919 528 0 5860
Illumina Clinical Services Laboratory,Illumina 56 15 1820 311 638 0 2819
Counsyl 97 468 338 22 0 0 925
Natera, Inc. 157 13 340 109 130 0 749
OMIM 579 0 0 0 1 0 580
ClinGen PAH Variant Curation Expert Panel 217 153 125 4 14 0 513
Baylor Genetics 107 25 145 0 0 0 277
Research and Development, ARUP Laboratories 194 2 6 0 12 0 214
Integrated Genetics/Laboratory Corporation of America 159 34 0 0 0 0 193
GeneReviews 155 0 0 0 13 0 168
Fulgent Genetics,Fulgent Genetics 73 22 50 0 0 0 145
Mendelics 42 32 16 15 19 0 124
Myriad Women's Health, Inc. 36 75 0 0 0 0 111
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Genomic Research Center, Shahid Beheshti University of Medical Sciences 20 14 26 0 0 0 60
Centre for Mendelian Genomics,University Medical Centre Ljubljana 24 14 21 1 0 0 60
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 2 50
Elsea Laboratory,Baylor College of Medicine 19 3 21 4 0 0 47
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 2 0 16 22 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 6 0 29 0 41
Institute of Human Genetics, Klinikum rechts der Isar 26 12 0 0 0 0 38
Institute of Human Genetics, University of Leipzig Medical Center 19 8 9 2 0 0 38
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 9 0 0 0 0 29
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 3 0 13 6 0 26
Genetic Services Laboratory, University of Chicago 15 7 3 0 0 0 25
Molecular Genetics laboratory,Necker Hospital 24 0 0 0 0 0 24
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 11 5 0 0 0 23
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 0 6 4 0 21
National Institute of Mental Health and Neurosciences 8 7 4 0 2 0 21
SingHealth Duke-NUS Institute of Precision Medicine 6 7 7 1 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 15 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 2 4 0 0 0 14
Knight Diagnostic Laboratories, Oregon Health and Sciences University 6 5 2 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 4 0 0 0 0 13
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 13 13
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 2 0 0 0 12
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 9 3 0 0 0 0 12
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 6 0 0 0 12
New York Genome Center 0 4 8 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 3 0 8 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 6 0 11
Broad Institute Rare Disease Group, Broad Institute 1 0 6 0 4 0 11
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 9 1 1 0 0 0 11
Centogene AG - the Rare Disease Company 9 1 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 5 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 5 0 1 0 10
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 9 0 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 3 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 8 0 0 0 9
Child Health and Human Development Program,Research Institute of the McGill University Health Center 9 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 6 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 0 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 4 1 1 1 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 1 0 0 0 0 6
Bonnen Lab,Baylor College of Medicine 6 0 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 6
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 4 2 0 0 0 0 6
Nilou-Genome Lab 1 0 1 2 2 0 6
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 3 0 0 0 0 5
Undiagnosed Diseases Network,NIH 1 0 4 0 0 0 5
Ege University Pediatric Genetics,Ege University 1 0 4 0 0 0 5
Kids Research, The Children's Hospital at Westmead 4 0 1 0 0 0 5
Clinical Genomics Program, Stanford Medicine 0 0 5 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 2 2 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 4
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 0 0 0 0 4
TIDEX, University of British Columbia 0 1 3 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 1 1 0 0 2 0 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 0 2 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Kasturba Medical College, Manipal University 3 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 3
Department of Biotechnology and Microbiology,Karnatak University Dharwad 0 2 1 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 1 2 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Sydney Children's Hospital, SCHN 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Sandor Lifesciences Pvt Ltd 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
laboratory of biochemistry,Caen University Hospital 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 2 0 0 0 0 0 2
Division of Biology and Genetics,University of Brescia 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
UF de génétique clinique,APHP Hôpital Armand Trousseau 0 2 0 0 0 0 2
Shaanxi Institute for Pediatric Diseases,Xi'an Children's Hospital 0 1 1 0 0 0 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 1
Molecular Genetics Laboratory,Edith Wolfson Medical Center 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 1 0 0 0 0 0 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 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
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 0 1 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 1
Ro'ya Specialized Medical Laboratories,King Abdulaziz University 1 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1 0 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 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.