ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.1659T>C

dbSNP: rs1603218609
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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 RCV000850683 SCV000992914 likely pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.1659T>C variant in MT-TV gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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, PP3, PP6
Mendelics RCV000850683 SCV002517737 pathogenic MELAS syndrome 2022-05-04 criteria provided, single submitter clinical testing

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