ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val)

dbSNP: rs144252007
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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 RCV001336832 SCV001530334 uncertain significance Combined oxidative phosphorylation defect type 13 2018-06-22 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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