ClinVar Miner

Submissions for variant m.15967G>A (rs199474701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000192058 SCV000207623 pathogenic Myoclonus with epilepsy with ragged red fibers 2015-01-29 no assertion criteria provided literature only
OMIM RCV000010185 SCV000030408 pathogenic MERFF syndrome 2009-03-01 no assertion criteria provided literature only
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851158 SCV000993392 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.15967G>A variant in MT-TP gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished).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, PM7, PM8, PM9

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