ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.113A>G (p.Glu38Gly)

dbSNP: rs1240133140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332064 SCV001524264 uncertain significance Mitochondrial DNA depletion syndrome 1 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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