ClinVar Miner

Submissions for variant NC_012920.1:m.7496T>C (rs1057516061)

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Total submissions: 2
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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 RCV000850900 SCV000993134 uncertain significance Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.7496T>C variant in MT-TS1 gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PP3, PP6
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408943 SCV000484518 uncertain significance Myopathy 2016-11-21 no assertion criteria provided clinical testing

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