ClinVar Miner

Submissions for variant m.13042G>A (rs267606898)

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Total submissions: 4
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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 RCV000854885 SCV000997930 pathogenic Leber's optic atrophy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.13042G>A (YP_003024036.1:p.Ala236Thr) variant in MTND5 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM8, PM9, PM10
OMIM RCV000010347 SCV000030573 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2007-04-01 no assertion criteria provided literature only
OMIM RCV000010348 SCV000030574 pathogenic MERRF syndrome 2007-04-01 no assertion criteria provided literature only
OMIM RCV000010349 SCV000030575 pathogenic Leigh syndrome due to mitochondrial complex I deficiency 2007-04-01 no assertion criteria provided literature only

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