ClinVar Miner

Submissions for variant NC_012920.1(MT-TL1):m.3242G>A

dbSNP: rs193303018
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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 RCV000850687 SCV000992918 likely pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.3242G>A variant in MT-TL1 gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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: PS5, PM9, PM10
Mendelics RCV000850687 SCV002517704 pathogenic MELAS syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010223 SCV000030447 pathogenic Myelodysplastic syndrome 2010-06-11 no assertion criteria provided literature only

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