ClinVar Miner

Variants studied for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

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
12 3 8 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SERAC1 12 3 8 21

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Invitae 0 1 6 7
Baylor Genetics 2 0 0 2
Sandor Lifesciences Pvt Ltd 2 0 0 2
laboratory of biochemistry,Caen University Hospital 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 1

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