ClinVar Miner

Submissions for variant NC_012920.1(MT-TH):m.12144A>G

dbSNP: rs1603223569
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Total submissions: 1
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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 RCV000851012 SCV000993246 uncertain significance MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12144A>G variant in MT-TH gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished).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, BP6

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