ClinVar Miner

Submissions for variant NC_012920.1(MT-TW):m.5566A>G

dbSNP: rs1603220029
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Total submissions: 1
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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 RCV000850800 SCV000993033 likely benign MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.5566A>G variant in MT-TW gene is interpreted to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BP4, BP6

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