ClinVar Miner

Variants in gene MMAB

See also:
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
21 18 85 40 20 1 167

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic acidemia 3 1 56 20 8 0 88
Methylmalonic aciduria cblB type 19 16 21 2 4 1 54
not provided 8 1 12 2 10 0 33
not specified 0 0 1 18 2 0 20

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 57 20 8 0 86
GeneDx 5 1 3 15 9 0 33
Counsyl 4 11 10 1 0 0 26
Invitae 3 4 11 0 3 0 21
GeneReviews 11 0 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 4 0 2 0 10
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 2 0 6
PreventionGenetics 0 0 0 3 1 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 0 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.