ClinVar Miner

Submissions for variant m.3271T>C (rs199474658)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507161 SCV000604303 pathogenic not specified 2017-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763624 SCV000894488 pathogenic MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2018-10-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000010212 SCV000992934 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.3271T>C variant in MT-TL1 gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished).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, PS5, PM7
OMIM RCV000010212 SCV000030436 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2005-08-01 no assertion criteria provided literature only

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