ClinVar Miner

Submissions for variant NC_012920.1(MT-CO3):m.9549C>T

dbSNP: rs1603222370
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Total submissions: 2
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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 RCV000854534 SCV000997572 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.9549C>T (YP_003024032.1:p.His115Tyr) variant in MTCO3 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM10, PP6
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196724 SCV001367356 uncertain significance See cases 2019-03-19 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.

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