ClinVar Miner

Variants studied for classic organic aciduria

Included ClinVar conditions (39):
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
1155 646 2693 1217 564 15 5720

Gene and significance breakdown #

Total genes and gene combinations: 50
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 220 73 123 52 19 3 376
HLCS 32 37 165 107 42 0 352
CUBN 6 0 223 34 78 0 341
PCCA 85 62 118 112 19 0 335
MMUT 124 78 108 20 17 0 322
OPA3 8 11 206 47 35 1 303
PCCB 74 57 119 93 9 1 303
IVD 37 52 118 65 29 0 268
MCCC1 55 14 145 57 12 1 267
ACAT1 72 57 94 42 21 0 257
MCCC2 42 17 147 57 17 1 253
MMAA 51 20 140 33 20 1 252
ACSF3 52 16 50 114 17 0 226
MMAB 24 21 118 38 31 1 207
CLPB 29 3 111 50 14 0 200
MMACHC 66 43 63 45 5 3 195
ACADSB 11 8 118 21 39 0 187
HMGCL 15 25 71 45 7 0 152
TAFAZZIN 26 16 61 31 7 0 134
HCFC1 6 0 48 31 29 0 113
ACAD8 10 2 81 14 15 1 111
MMADHC 18 5 34 27 15 0 91
ABCD4 6 2 39 21 12 0 78
LMBRD1 6 0 44 13 10 2 72
SERAC1 17 7 33 7 13 0 71
AUH 11 4 40 9 7 0 66
HIBCH 13 9 12 5 7 0 40
MCEE 4 0 19 8 7 0 32
DNAJC19 4 1 11 4 3 0 23
DNASE1L1, TAFAZZIN 4 1 9 7 1 0 22
MMAB, MVK 1 3 5 2 6 0 16
GGACT, PCCA 2 0 7 4 0 0 13
TIMM50 9 0 3 0 0 0 12
HTRA2 2 0 2 0 0 0 4
MMADHC, MMADHC-DT 0 0 3 1 0 0 4
AMN 2 0 1 0 0 0 3
UQCRFS1 3 0 0 0 0 0 3
GALE, HMGCL 0 0 0 1 1 0 2
HTRA2, LOXL3 2 0 0 0 0 0 2
MMACHC, PRDX1 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ACAT1, ACAT2 1 0 0 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
DCDC2C 0 0 1 0 0 0 1
FUCA1, HMGCL 1 0 0 0 0 0 1
LOC112163638, PCCA 0 1 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
PEX16 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 515 156 925 1039 231 0 2866
Illumina Clinical Services Laboratory,Illumina 15 7 1302 149 336 0 1808
Counsyl 99 272 235 17 0 0 623
Natera, Inc. 55 11 289 54 70 0 479
OMIM 228 0 0 0 0 0 228
Research and Development, ARUP Laboratories 194 2 6 0 12 0 214
Baylor Genetics 65 22 69 0 0 0 156
GeneReviews 108 0 0 0 8 0 116
Department of Pediatrics, Gifu University 44 44 18 0 0 0 106
Integrated Genetics/Laboratory Corporation of America 71 9 1 0 0 0 81
Mendelics 32 8 11 4 6 0 61
University Children's Hospital, University of Zurich 60 0 1 0 0 0 61
Fulgent Genetics,Fulgent Genetics 27 7 16 0 0 0 50
Myriad Women's Health, Inc. 12 35 0 0 0 0 47
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 38 0 0 0 2 0 40
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 6 19 1 0 0 36
Laboratory of Metabolic Disorders, Peking University First Hospital 12 17 0 0 0 0 29
Elsea Laboratory,Baylor College of Medicine 8 0 17 2 0 0 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 13 0 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 4 0 13 0 23
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 3 19 0 0 0 0 22
Institute of Human Genetics, Klinikum rechts der Isar 11 10 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 13 0 20
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 8 9 1 1 0 0 19
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 2 7 0 0 0 16
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 4 3 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 6 2 5 1 0 0 14
SingHealth Duke-NUS Institute of Precision Medicine 6 3 5 0 0 0 14
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 9 4 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 4 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 2 0 1 0 0 8
Genetic Services Laboratory, University of Chicago 6 1 0 0 0 0 7
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 2 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 2 1 0 0 0 7
Neurology Department,Peking University First Hospital 6 0 1 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 5 2 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 2 0 0 0 6
Centogene AG - the Rare Disease Company 3 2 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 2 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 3 0 0 0 5
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 3 2 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 2 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 2 0 0 0 4
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 4 4
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 2 0 4
Nilou-Genome Lab 1 0 2 1 0 0 4
Pars Genome Lab 0 0 2 2 0 0 4
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 1 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 2 0 1 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 1 0 0 0 0 2
Sandor Lifesciences Pvt Ltd 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 2 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
laboratory of biochemistry,Caen University Hospital 2 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Bonnen Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Pediatric Metabolic Diseases,Hacettepe University 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
Laboratory of Genetics and Genomics,Institute for Developing Science and Health Initiatives Foundation 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 1
Ro'ya Specialized Medical Laboratories,King Abdulaziz University 1 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 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.