ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465386 SCV002760052 likely pathogenic Intellectual disability, autosomal dominant 57 2022-11-29 criteria provided, single submitter research

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