ClinVar Miner

Variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
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
95 92 291 72 37 5 572

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OPA3 4 8 109 54 15 1 189
CUBN 9 40 66 0 16 2 127
TAZ 23 12 25 11 2 0 70
CLPB 24 1 36 0 1 0 59
AUH 9 2 20 4 0 0 34
AMN 1 23 3 0 1 2 28
SERAC1 12 5 9 0 0 0 23
DNAJC19 2 0 19 0 1 0 22
DNASE1L1, TAZ 1 1 3 3 1 0 9
TIMM50 4 0 0 0 0 0 4
HTRA2 2 0 0 0 0 0 2
HTRA2, LOXL3 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
AMN, TRAF3 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 116 63 18 0 196
Invitae 23 7 126 6 7 0 169
OMIM 51 0 0 0 0 0 51
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Counsyl 1 6 29 0 0 0 36
GeneReviews 23 0 0 0 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 15 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 7 7 0 0 0 16
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 10 0 0 0 0 14
Mendelics 1 0 4 0 1 0 6
Institute of Human Genetics,Klinikum rechts der Isar 2 4 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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