ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.478C>T (p.Arg160Ter) (rs1555034779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599486 SCV000710619 pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing The R160X variant in the KMT2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R160X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R160X as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000599486 SCV000892008 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit,CHU de Montpellier RCV001261357 SCV001438231 likely pathogenic Wiedemann-Steiner syndrome 2015-11-09 no assertion criteria provided clinical testing

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