ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP6):m.8993_8994inv

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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 RCV000854391 SCV000997426 pathogenic NARP syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8993_8994inv (YP_003024031.1:p.Leu156Pro) variant in MTATP6 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM2, PM9, PP4, PP6

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