ClinVar Miner

Variants in gene MMAA

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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
82 63 200 210 35 16 545

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria, cblA type 81 58 171 197 22 15 496
not provided 11 3 9 7 14 0 43
Inborn genetic diseases 0 0 28 3 0 0 31
Methylmalonic acidemia 11 2 9 5 1 0 28
not specified 0 0 2 6 5 0 13
MMAA-related condition 2 2 0 7 0 0 11
See cases 1 0 1 0 0 0 2
Cataract; Microcephaly; Severe global developmental delay 0 0 1 0 0 0 1
Methylmalonic aciduria of the cblA complementation type 1 0 0 0 0 0 1
Methylmalonic aciduria, cblB type 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 11 50 192 8 0 318
Illumina Laboratory Services, Illumina 1 0 104 9 16 0 130
Natera, Inc. 8 0 36 5 5 0 54
Baylor Genetics 19 22 1 0 0 0 42
GeneDx 8 1 4 8 18 0 39
Ambry Genetics 0 0 28 3 0 0 31
Counsyl 9 14 8 0 0 0 31
University Children's Hospital, University of Zurich 19 0 1 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 2 2 0 0 0 15
GeneReviews 0 0 0 0 0 15 15
PreventionGenetics, part of Exact Sciences 2 2 0 7 3 0 14
Revvity Omics, Revvity 4 1 6 0 0 0 11
Myriad Genetics, Inc. 1 10 0 0 0 0 11
Fulgent Genetics, Fulgent Genetics 2 1 5 0 0 0 8
CeGaT Center for Human Genetics Tuebingen 3 1 0 3 1 0 8
Genome-Nilou Lab 0 0 5 1 0 0 6
OMIM 5 0 0 0 0 0 5
Eurofins Ntd Llc (ga) 1 0 2 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Pars Genome Lab 0 0 0 0 4 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1

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