ClinVar Miner

Variants in gene MMAB

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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
64 51 183 201 60 13 493

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria, cblB type 63 50 149 182 36 12 425
not provided 10 1 21 15 51 1 97
Methylmalonic acidemia 7 4 22 3 0 0 36
Inborn genetic diseases 3 0 17 1 1 0 22
not specified 0 0 5 15 3 0 22
MMAB-related disorder 2 1 0 6 0 0 9
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 0 0 1 0 1
Methylmalonic aciduria 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 14 39 177 7 0 279
Illumina Laboratory Services, Illumina 1 0 92 6 26 0 125
GeneDx 8 1 4 20 28 0 61
Natera, Inc. 6 2 35 7 3 0 53
Breakthrough Genomics, Breakthrough Genomics 0 0 9 7 36 0 52
Fulgent Genetics, Fulgent Genetics 6 13 28 1 0 0 48
Baumgartner lab, University Children's Hospital Zurich 30 0 0 0 0 0 30
Baylor Genetics 13 16 0 0 0 0 29
Ambry Genetics 3 0 17 1 1 0 22
Counsyl 1 11 9 1 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 5 0 2 0 17
PreventionGenetics, part of Exact Sciences 2 1 0 9 1 0 13
GeneReviews 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 10
Eurofins Ntd Llc (ga) 4 0 3 0 2 0 9
Pars Genome Lab 0 0 0 1 5 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 3 2 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 4 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 1 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 2 0 0 4
Genome-Nilou Lab 1 0 2 0 1 0 4
Myriad Genetics, Inc. 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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