ClinVar Miner

Submissions for variant m.11777C>A (rs28384199)

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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 RCV000854746 SCV000997788 pathogenic Leber's optic atrophy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11777C>A (YP_003024035.1:p.Arg340Ser) variant in MTND4 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS3, PM8, PM9, PP3, PP4, PP6
OMIM RCV000010357 SCV000030583 pathogenic Mitochondrial complex I deficiency 2003-04-22 no assertion criteria provided literature only
GeneReviews RCV000144013 SCV000188905 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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