ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.861T>A (p.Cys287Ter)

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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 RCV004797580 SCV005418542 likely pathogenic Intellectual disability, autosomal dominant 55, with seizures criteria provided, single submitter clinical testing PVS1_Moderate+PM2_Supporting+PS2_Moderate+PP4

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