ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.36del (p.Gln13fs)

dbSNP: rs2144334211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706852 SCV001934386 pathogenic Intellectual disability, autosomal dominant 57 2021-01-08 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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