ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.11144A>T

dbSNP: rs1603223129
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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 RCV000854710 SCV000997752 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11144A>T (YP_003024035.1:p.Thr129Ser) variant in MTND4 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP3

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