ClinVar Miner

Submissions for variant NC_012920.1(MT-TK):m.8348A>G

dbSNP: rs1556423430
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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 RCV000850954 SCV000993188 benign MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.8348A>G variant in MT-TK gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BS2
Athena Diagnostics RCV000992386 SCV001144616 likely benign not provided 2019-06-05 criteria provided, single submitter clinical testing

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