ClinVar Miner

Submissions for variant NC_012920.1:m.3928G>C (rs587776442)

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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 RCV000144023 SCV000996747 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3928G>C (YP_003024026.1:p.Val208Leu) variant in MTND1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM2, PM9, PP4
GeneReviews RCV000144023 SCV000188916 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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