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
837 481 1185 221 199 17 2688

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 200 59 88 7 15 1 289
MMUT 121 41 41 6 11 0 206
OPA3 4 7 108 54 15 1 187
ACAT1 60 48 55 12 5 0 166
HLCS 17 21 97 15 20 0 156
PCCB 42 45 65 14 4 1 154
PCCA 50 39 49 12 9 0 142
CUBN 9 39 65 4 19 2 132
ACADSB 8 4 92 14 15 0 127
IVD 17 36 56 16 13 0 126
MCCC1 32 7 75 2 4 1 116
MMACHC 37 28 43 2 3 3 105
MCCC2 18 7 60 4 6 1 88
TAZ 23 11 25 16 4 0 74
MMAA 44 16 14 0 1 1 72
CLPB 23 1 36 6 8 0 71
HMGCL 12 15 34 5 3 0 65
ACAD8 6 2 43 7 4 1 57
MMAB 19 16 21 2 4 1 54
AUH 9 2 20 6 1 0 36
AMN 1 23 3 1 3 2 31
ACSF3 16 2 10 1 1 0 27
HCFC1 6 0 11 2 6 0 25
DNAJC19 2 0 19 0 3 0 23
MMADHC 12 1 3 2 5 0 23
ABCD4 5 0 12 1 4 0 22
SERAC1 12 3 8 0 0 0 21
LMBRD1 4 0 7 3 3 2 19
HIBCH 10 4 4 0 0 0 16
BTD, HACL1 0 0 8 1 1 0 9
DNASE1L1, TAZ 0 1 3 3 1 0 8
GGACT, PCCA 1 0 5 2 0 0 8
MCEE 3 0 3 0 3 0 8
MMAB, MVK 1 1 1 0 4 0 7
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
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
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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 211 57 424 58 113 0 862
Illumina Clinical Services Laboratory,Illumina 15 7 493 139 61 0 714
Counsyl 105 261 232 17 0 0 615
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
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
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
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 8 8 0 0 0 19
SingHealth Duke-NUS Institute of Precision Medicine 6 5 8 0 0 0 19
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
Institute of Human Genetics,Klinikum rechts der Isar 3 5 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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 3 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,Institute of Human Genetics 3 2 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
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 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
laboratory of biochemistry,Caen University Hospital 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
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 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

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