ClinVar Miner

Variants in gene combination MT-ATP6, MT-CO3

See also:
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
1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic total
Leber optic atrophy 1 0 1
Mitochondrial disease 0 1 1
Seizures and lactic acidosis 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic total
OMIM 1 0 1
Mendelics 1 0 1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 1 1

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