ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser)

dbSNP: rs1696380450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090966 SCV001246766 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
OMIM RCV001527689 SCV001738819 pathogenic Combined oxidative phosphorylation defect type 13 2021-06-25 no assertion criteria provided literature only

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