ClinVar Miner

Submissions for variant NC_012920.1(MT-TS2):m.12264C>T

dbSNP: rs1603223642
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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 RCV000851065 SCV000993299 likely pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12264C>T variant in MT-TS2 gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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: PM7, PM9, PM10
Mendelics RCV000851065 SCV002517733 pathogenic MELAS syndrome 2022-05-04 criteria provided, single submitter clinical testing

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