ClinVar Miner

Variants studied for Myopathy, lactic acidosis, and sideroblastic anemia 2

Coded as:
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
7 4 27 4 14 54

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
YARS2 7 4 24 3 8 44
DNM1L, YARS2 0 0 3 1 6 10

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 23 4 11 38
Genome-Nilou Lab 0 0 0 0 10 10
OMIM 5 0 0 0 0 5
Baylor Genetics 1 1 1 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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