ClinVar Miner

Submissions for variant m.12706T>C (rs267606893)

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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 RCV000144015 SCV000997893 likely pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12706T>C (YP_003024036.1:p.Phe124Leu) variant in MTND5 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PM10, PP4, PP6, PP7
OMIM RCV000010338 SCV000030564 pathogenic Leigh syndrome due to mitochondrial complex I deficiency 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000144015 SCV000188907 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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