ClinVar Miner

Variants studied for malonic aciduria

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 not provided total
54 15 189 319 32 1 580

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MLYCD 32 7 138 225 26 1 411
LOC126862422, MLYCD 3 2 22 39 3 0 65
LOC130059554, MLYCD 12 3 19 34 2 0 65
LOC130059555, MLYCD 4 3 10 21 1 0 36
LOC126862422, LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 1
LOC130059554, LOC130059555, MLYCD 1 0 0 0 0 0 1
MLYCD, NECAB2, OSGIN1, SLC38A8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 6 132 310 25 0 516
Illumina Laboratory Services, Illumina 0 0 56 9 16 0 81
Fulgent Genetics, Fulgent Genetics 2 7 2 1 0 0 12
Revvity Omics, Revvity 2 0 7 0 0 0 9
OMIM 8 0 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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