ClinVar Miner

Submissions for variant m.8296A>G

dbSNP: rs118192102
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Total submissions: 3
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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 RCV000850935 SCV000993169 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.8296A>G variant in MT-TK gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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
OMIM RCV000010201 SCV000030424 pathogenic Diabetes-deafness syndrome maternally transmitted 1998-04-17 no assertion criteria provided literature only
GeneReviews RCV000850935 SCV004042626 not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke no assertion provided literature only

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