ClinVar Miner

Variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Coded as:
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
119 41 41 6 11 204

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MMUT 116 41 41 6 11 201
MMACHC 2 0 0 0 0 2
MAN2B1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 38 36 18 1 0 93
Invitae 33 4 15 3 4 59
University Children's Hospital, University of Zurich 41 0 0 0 0 41
GeneReviews 26 0 0 0 5 31
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 7
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 6 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 1 1 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 3 5
Illumina Clinical Services Laboratory,Illumina 2 0 2 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1

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