ClinVar Miner

Submissions for variant NC_012920.1:m.11984T>C (rs200911567)

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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 RCV000144014 SCV000997806 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11984T>C (YP_003024035.1:p.Tyr409His) variant in MTND4 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS4, BP4
GeneReviews RCV000144014 SCV000188906 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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