ClinVar Miner

Submissions for variant NM_001243251.1(NARS2):c.-531C>T (rs367584549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000656263 SCV000778225 likely pathogenic not provided 2016-10-28 no assertion criteria provided clinical testing
OMIM RCV000779619 SCV000916298 pathogenic Combined oxidative phosphorylation deficiency 24 2019-05-24 no assertion criteria provided literature only

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