ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.822G>C (p.Gln274His)

dbSNP: rs730882154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000162034 SCV000211961 pathogenic Combined oxidative phosphorylation defect type 24 2015-02-01 no assertion criteria provided literature only

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