ClinVar Miner

Submissions for variant NC_012920.1:m.3275C>T

dbSNP: rs1057516057
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Total submissions: 5
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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 RCV000850706 SCV000992939 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.3275C>T variant in MT-TL1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408925 SCV000484511 uncertain significance Leber optic atrophy 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408938 SCV000484512 uncertain significance Myopia; Hepatic steatosis; Hepatitis; Fibrosis 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408950 SCV000484513 uncertain significance Neuromuscular disease; Developmental delay 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408928 SCV000484514 uncertain significance Developmental delay 2016-11-21 no assertion criteria provided clinical testing

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