ClinVar Miner

Variants studied for Vitamin B12-responsive methylmalonic acidemia type cblA

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
51 20 143 54 21 273

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MMAA 51 20 143 54 21 273

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 100 5 16 121
Invitae 16 3 13 48 7 87
Natera, Inc. 6 0 26 2 4 38
Counsyl 9 14 8 0 0 31
University Children's Hospital, University of Zurich 19 0 1 0 0 20
GeneReviews 15 0 0 0 0 15
Nilou-Genome Lab 0 0 5 1 0 6
OMIM 5 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Pars Genome Lab 0 0 0 0 4 4
Baylor Genetics 1 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2 0 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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