ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP6):m.9035T>C (rs1603222000)

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Total submissions: 3
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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 RCV000854406 SCV000997441 pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.9035T>C (YP_003024031.1:p.Leu170Pro) variant in MTATP6 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PS3
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196557 SCV001367165 pathogenic See cases 2018-10-05 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP1-S,PP3. This variant was detected in homozygous state.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000851177 SCV000993411 likely pathogenic Progressive cerebellar ataxia 2018-06-01 no assertion criteria provided research

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