ClinVar Miner

Variants in gene MMAA

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
52 22 151 46 23 1 277

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Vitamin B12-responsive methylmalonic acidemia type cblA 51 20 140 33 20 0 251
Methylmalonic acidemia 8 0 9 5 1 0 23
not provided 7 2 5 5 2 0 21
not specified 0 0 0 8 5 0 13
Cataract (disease); 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
Vitamin B12-responsive methylmalonic acidemia type cblB 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 107 9 16 0 132
Invitae 16 3 13 32 5 0 69
Natera, Inc. 6 0 28 3 5 0 42
Counsyl 9 14 8 0 0 0 31
GeneDx 6 1 1 7 7 0 22
University Children's Hospital, University of Zurich 19 0 1 0 0 0 20
GeneReviews 15 0 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 8 0 0 0 0 0 8
OMIM 5 0 0 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 2 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1

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