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
GeneReviews RCV000144004 SCV000188891 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
GeneReviews RCV000192053 SCV000207616 pathogenic Myoclonus with epilepsy with ragged red fibers 2015-01-29 no assertion criteria provided literature only
OMIM RCV000010197 SCV000030420 pathogenic Cardiomyopathy and Deafness 1996-05-01 no assertion criteria provided literature only
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A variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished).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

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