ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.586G>A

dbSNP: rs387906734
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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 RCV000850632 SCV000992863 pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.586G>A variant in MT-TF gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished).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, PM7, PM8, PM9
OMIM RCV000022903 SCV000044194 pathogenic Mitochondrial encephalopathy 2010-11-01 no assertion criteria provided literature only

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