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
869 526 1202 180 132 17 2661

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 205 69 99 8 16 1 309
MMUT 123 45 43 4 8 0 208
OPA3 4 8 109 54 15 1 189
ACAT1 56 49 55 12 4 0 163
PCCB 46 47 65 9 2 1 153
HLCS 17 22 97 14 7 0 147
PCCA 55 40 48 11 6 0 142
CUBN 9 43 69 0 16 2 133
IVD 25 43 57 14 10 0 129
ACADSB 8 4 92 15 12 0 127
MCCC1 32 7 75 0 5 1 116
MMACHC 46 36 43 1 1 3 112
MCCC2 18 7 59 3 4 1 85
MMAA 44 16 14 0 2 1 73
TAZ 23 12 25 11 2 0 70
HMGCL 12 15 35 2 1 0 62
CLPB 24 1 36 0 1 0 59
ACAD8 6 2 43 7 2 1 56
MMAB 19 18 21 2 1 1 53
AUH 9 2 20 4 0 0 34
ACSF3 16 2 10 0 3 0 28
AMN 1 23 3 0 1 2 28
SERAC1 12 5 9 0 0 0 23
DNAJC19 2 0 19 0 1 0 22
ABCD4 5 0 12 1 2 0 19
HCFC1 6 0 11 2 0 0 19
HIBCH 11 5 6 0 0 0 18
MMADHC 12 1 4 0 1 0 18
LMBRD1 4 0 8 0 2 2 16
DNASE1L1, TAZ 1 1 3 3 1 0 9
GGACT, PCCA 1 0 5 2 0 0 8
MCEE 3 0 3 0 2 0 7
MMAB, MVK 1 1 1 0 3 0 6
TIMM50 4 0 0 0 0 0 4
GALE, HMGCL 0 0 0 1 1 0 2
HTRA2 2 0 0 0 0 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
AMN, TRAF3 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
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

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 211 57 419 13 23 0 722
Illumina Clinical Services Laboratory,Illumina 15 7 493 139 61 0 714
Counsyl 109 273 235 17 0 0 634
OMIM 214 0 0 0 0 0 214
Research and Development, ARUP Laboratories 194 2 6 0 12 0 214
GeneReviews 108 0 0 0 8 0 116
Department of Pediatrics, Gifu University 44 44 18 0 0 0 106
Mendelics 32 8 13 4 6 0 63
University Children's Hospital, University of Zurich 60 0 1 0 0 0 61
Baylor Genetics 44 12 1 0 0 0 57
Fulgent Genetics,Fulgent Genetics 27 7 16 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 43 5 1 0 0 0 49
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 38 0 0 0 2 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 5 0 27 0 37
Laboratory of Metabolic Disorders, Peking University First Hospital 12 17 0 0 0 0 29
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 3 15 0 0 0 28
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 12 11 0 0 0 27
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 12 14 0 0 0 0 26
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 6 13 0 20
SingHealth Duke-NUS Institute of Precision Medicine 6 5 8 0 0 0 19
Institute of Human Genetics,Klinikum rechts der Isar 7 7 0 0 0 0 14
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 6 5 2 1 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 1 0 0 0 0 7
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 7 7
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 3 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 5 2 0 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 5 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 4 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 2 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health: 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 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
Medical Genetics and Immunology,Urmia University of Medical sciences 0 1 0 0 0 0 1

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