ClinVar Miner

Variants studied for Myopathy, early-onset, with fatal cardiomyopathy

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 29 713 241 0 990

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 total
TTN 7 29 708 230 974
LOC101927055, TTN 0 0 5 11 16

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Illumina Clinical Services Laboratory,Illumina 0 0 708 241 949
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 27 1 0 31
OMIM 4 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 2 0 4
GeneReviews 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 2

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