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
46 18 80 23 10 1 169

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic acidemia 4 0 64 15 3 0 86
Methylmalonic aciduria cblA type 44 16 14 0 1 0 71
not provided 7 2 4 0 2 0 15
not specified 0 0 0 8 5 0 13
Cataract; Microcephaly; Severe global developmental delay 0 0 1 0 0 0 1
Methylmalonic aciduria cblB type 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 64 15 3 0 82
Counsyl 10 14 8 0 0 0 32
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
Invitae 5 1 4 0 0 0 10
OMIM 5 0 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 0 1 0 4
PreventionGenetics 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1 0 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 0 0 0 2
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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1

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