ClinVar Miner

Variants studied for 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Included ClinVar conditions (1):
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 total
29 3 111 50 14 200

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLPB 29 3 111 50 14 200

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 2 103 50 14 179
GeneReviews 20 0 0 0 0 20
OMIM 10 0 0 0 0 10
Baylor Genetics 0 1 9 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Mendelics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 1 0 0 1

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