ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)

dbSNP: rs111033577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004885 SCV000025061 pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 2010-09-24 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000508905 SCV000575925 pathogenic Mitochondrial disease 2017-04-07 no assertion criteria provided clinical testing

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