ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg)

gnomAD frequency: 0.00001  dbSNP: rs1251044974
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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 RCV000855774 SCV000998989 likely pathogenic Mitochondrial DNA depletion syndrome 1 2019-07-17 criteria provided, single submitter clinical testing

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