ClinVar Miner

Submissions for variant NC_012920.1(MT-TQ):m.4394C>A

dbSNP: rs1603219441
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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 RCV000850757 SCV000992990 benign MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4394C>A variant in MT-TQ gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4

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