ClinVar Miner

Submissions for variant m.3256C>T (rs199474659)

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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 RCV000850697 SCV000992929 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.3256C>T variant in MT-TL1 gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5, PM7
OMIM RCV000010213 SCV000030437 pathogenic MERRF syndrome 1998-03-01 no assertion criteria provided literature only
OMIM RCV000010214 SCV000030438 pathogenic Diabetes mellitus, noninsulin-dependent, maternally transmitted 1998-03-01 no assertion criteria provided literature only

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