ClinVar Miner

Variants studied for Vitamin B12-responsive methylmalonic acidemia type cblB

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
49 24 126 72 42 3 271

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 47 21 121 70 36 2 254
MMAB, MVK 2 3 5 2 6 0 16
MMAA 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 8 23 66 12 0 119
Illumina Clinical Services Laboratory,Illumina 1 0 75 3 30 0 109
Natera, Inc. 5 1 29 2 5 0 42
Baumgartner lab,University Children's Hospital Zurich 33 0 0 0 0 0 33
Counsyl 3 13 11 1 0 0 28
GeneReviews 11 0 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Nilou-Genome Lab 1 0 4 0 1 0 6
Pars Genome Lab 0 0 0 1 5 0 6
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Mendelics 0 1 0 0 1 0 2
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 2 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
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 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, FRIGE's 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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