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Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Dilated cardiomyopathy, Macrocytic dyserythropoietic anemia
Likely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Dilated cardiomyopathy, Macrocytic dyserythropoietic anemia
Likely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
3.
GRCh37:
ChrMT:5814
GRCh38:
ChrMT:5814
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, not specifiedConflicting interpretations of pathogenicity
(Mar 10, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
ChrMT:5816
GRCh38:
ChrMT:5816
MT-TCDystonia, mitochondrialPathogenic
(Aug 28, 2007)
no assertion criteria provided
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