ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP8):m.8412T>C

dbSNP: rs1556423451
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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 RCV000854179 SCV000997212 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8412T>C (YP_003024030.1:p.Met16Thr) variant in MTATP8 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished).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: PM9, BS1

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