ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.169G>A (p.Gly57Ser)

dbSNP: rs749123392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000855775 SCV000998990 likely pathogenic Mitochondrial DNA depletion syndrome, myopathic form 2019-07-17 criteria provided, single submitter clinical testing

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