ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP8):m.8533G>A

dbSNP: rs386829039
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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 RCV000854222 SCV000997255 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8533G>A (YP_003024031.1:p.Glu3Lys) variant in MTATP6 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS4, BP5

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