ClinVar Miner

Variants studied for Methylmalonic aciduria cblB type

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 not provided total
20 17 22 2 8 2 62

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 not provided total
MMAB 19 16 21 2 4 1 54
MMAB, MVK 1 1 1 0 4 0 7
MMAA 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 12 11 1 0 0 28
Invitae 3 4 11 0 5 0 23
GeneReviews 11 0 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1

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