ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797410 SCV005416966 likely pathogenic Infantile onset spinocerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Perrault syndrome 5 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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