ClinVar Miner

Submissions for variant m.4284G>A (rs121434468)

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Total submissions: 3
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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 RCV000850716 SCV000992949 likely pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4284G>A variant in MT-TI gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM8, PM9, PM10
OMIM RCV000010227 SCV000030451 pathogenic Multisystem disorder 2002-01-01 no assertion criteria provided literature only
GeneReviews RCV000192056 SCV000207621 pathogenic Myoclonus with epilepsy with ragged red fibers 2015-01-29 no assertion criteria provided literature only

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