ClinVar Miner

Variants studied for autosomal dominant mitochondrial myopathy with exercise intolerance

Included ClinVar conditions (2):
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 not provided total
4 1 102 69 10 4 188

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 not provided total
CHCHD10 4 1 100 69 10 4 186
C22orf15, CHCHD10 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 102 69 9 0 183
GeneReviews 1 0 0 0 0 3 4
Genome-Nilou Lab 0 0 0 0 4 0 4
OMIM 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1

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