ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP8):m.8568C>A

dbSNP: rs1603221589
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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 RCV000854241 SCV000997274 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8568C>A (YP_003024031.1:p.Ile14Met) variant in MTATP6 gene (also (YP_003024030.1:p.Ser68Tyr) variant in MTATP8 gene) is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP4

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