ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)

dbSNP: rs565224393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000779611 SCV001146806 likely pathogenic Combined oxidative phosphorylation defect type 24 2019-08-28 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Combined oxidative phosphorylation deficiency 24, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PS3-Moderate, PVS1-Moderate.
Revvity Omics, Revvity RCV001784392 SCV002018204 pathogenic not provided 2019-11-26 criteria provided, single submitter clinical testing
OMIM RCV000779611 SCV000916290 pathogenic Combined oxidative phosphorylation defect type 24 2019-05-28 no assertion criteria provided literature only

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