ClinVar Miner

Variants studied for Deficiency of malonyl-CoA decarboxylase

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 not provided total
50 9 189 319 32 1 573

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 28 3 138 225 26 1 404
LOC126862422, MLYCD 3 2 22 39 3 0 65
LOC130059554, MLYCD 12 2 19 34 2 0 65
LOC130059555, MLYCD 4 2 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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 6 132 310 25 0 514
Illumina Laboratory Services, Illumina 0 0 56 9 16 0 81
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
Fulgent Genetics, Fulgent Genetics 0 1 2 1 0 0 4
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
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 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

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