ClinVar Miner

Submissions for variant NC_012920.1(MT-TI):m.4296G>A

dbSNP: rs1603219393
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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 RCV000850719 SCV000992952 likely pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4296G>A variant in MT-TI gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM8, PM9, PM10
Mendelics RCV002249542 SCV002517698 pathogenic MERRF syndrome 2022-05-04 criteria provided, single submitter clinical testing

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