ClinVar Miner

Submissions for variant m.8363G>A (rs118192100)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850961 SCV000993195 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.8363G>A variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5, PM7
OMIM RCV000010197 SCV000030420 pathogenic Cardiomyopathy and Deafness 1996-05-01 no assertion criteria provided literature only
GeneReviews RCV000144004 SCV000188891 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
GeneReviews RCV000192053 SCV000207616 pathogenic MERRF syndrome 2015-01-29 no assertion criteria provided literature only

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