ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.647C>T (p.Ala216Val)

gnomAD frequency: 0.00001  dbSNP: rs1064792855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000208630 SCV002021570 likely pathogenic Mitochondrial DNA depletion syndrome 1 2021-05-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000208630 SCV004207502 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-11-22 criteria provided, single submitter clinical testing

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