ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.417+2T>G

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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 RCV003464760 SCV004207534 likely pathogenic Mitochondrial DNA depletion syndrome 1 2021-11-24 criteria provided, single submitter clinical testing

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