ClinVar Miner

Variants studied for combined malonic and methylmalonic acidemia

Included ClinVar conditions (1):
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 total
113 119 165 450 53 815

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACSF3 106 110 150 404 48 739
ACSF3, LOC125177393 7 9 15 46 5 76

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 105 30 121 447 34 737
Baylor Genetics 6 90 4 0 0 100
Natera, Inc. 3 5 41 15 8 72
Genome-Nilou Lab 1 0 9 0 27 37
Fulgent Genetics, Fulgent Genetics 3 8 13 2 0 26
Revvity Omics, Revvity 2 8 5 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 8 0 0 0 11
OMIM 10 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 0 4 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1

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