ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)

dbSNP: rs80356543
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004888 SCV000025064 pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 2005-01-25 no assertion criteria provided literature only
GeneReviews RCV000020867 SCV000041458 not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis no assertion provided literature only

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