ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.968+1G>C

dbSNP: rs1598620094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995901 SCV001150292 pathogenic Intellectual disability, autosomal dominant 57 2018-09-27 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002279690 SCV002564544 pathogenic Neurodevelopmental disorder 2022-07-27 criteria provided, single submitter clinical testing

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