ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.732T>G (p.Asp244Glu)

dbSNP: rs778362433
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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003326305 SCV004032478 uncertain significance Intellectual disability, autosomal dominant 57 2023-02-02 criteria provided, single submitter clinical testing

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