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
22 10 28 19 5 79

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 21 9 25 16 4 70
DNASE1L1, TAZ 1 1 3 3 1 9

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 25 10 3 47
OMIM 14 0 0 0 0 14
Illumina Clinical Services Laboratory,Illumina 0 0 3 6 2 11
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
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
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 1

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