ClinVar Miner

Submissions for variant NC_012920.1(MT-CO1):m.6550A>G

dbSNP: rs1603220532
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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 RCV000853983 SCV000997016 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.6550A>G (YP_003024028.1:p.Asn216Ser) variant in MTCO1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP7

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