ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570916 SCV001795288 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002072209 SCV002475174 likely benign Koolen-de Vries syndrome 2021-10-20 criteria provided, single submitter clinical testing

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