ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1301-1G>A

dbSNP: rs773785934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000208666 SCV004207513 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-08-02 criteria provided, single submitter clinical testing
GeneReviews RCV000208666 SCV000264553 pathogenic Mitochondrial DNA depletion syndrome 1 2016-01-14 no assertion criteria provided literature only

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