ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala)

dbSNP: rs750110394
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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 RCV001336834 SCV001530336 uncertain significance Combined oxidative phosphorylation defect type 13 2018-09-28 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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