ClinVar Miner

Submissions for variant m.1624C>T (rs199476144)

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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 RCV000850667 SCV000992898 likely pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.1624C>T variant in MT-TV gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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: PS3, PP3, PP4
OMIM RCV000010157 SCV000030378 pathogenic Neonatal death 2002-02-01 no assertion criteria provided literature only
OMIM RCV000010158 SCV000030379 pathogenic Leigh syndrome 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000010158 SCV000188913 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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