ClinVar Miner

Submissions for variant NC_012920.1(MT-TK):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 MELAS syndrome 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G variant in MT-TK gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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 MELAS syndrome no assertion provided literature only

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