ClinVar Miner

Variants studied for Myopathy, lactic acidosis, and sideroblastic anemia 1

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
7 17 46 18 10 92

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PUS1 5 12 42 16 7 78
LOC132090059, PUS1 1 2 3 2 2 8
LOC130009240, PUS1 1 3 1 0 1 6

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 37 11 6 54
Baylor Genetics 2 15 2 0 0 19
Natera, Inc. 0 0 9 6 2 17
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
3billion 1 1 0 0 0 2
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center, Location AMC 1 0 0 0 0 1
Revvity Omics, Revvity Omics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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