ClinVar Miner

Variants studied for TTN-related myopathy

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
6 7 13 7 3 36

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 6 7 10 7 3 33
LOC126806420, TTN 0 0 1 0 0 1
LOC126806421, TTN 0 0 1 0 0 1
LOC126806428, TTN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 5 5 0 0 11
Molecular Genetics, Royal Melbourne Hospital 0 0 0 7 3 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 1 1 0 0 7
Illumina Laboratory Services, Illumina 0 0 5 0 0 5
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 1 2 0 0 3

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