ClinVar Miner

Variants studied for 3-Methylglutaconic aciduria type 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
23 14 56 22 8 116

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TAZ 22 13 48 18 7 101
DNASE1L1, TAZ 1 1 8 4 1 15

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 5 45 14 3 74
Illumina Clinical Services Laboratory,Illumina 0 0 10 6 5 21
OMIM 14 0 0 0 0 14
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 5 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 0 4
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 1

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