ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) (rs1555186053)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599418 SCV000710696 pathogenic not provided 2018-02-27 criteria provided, single submitter clinical testing The Q4905X variant in the KMT2D 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 Q4905X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q4905X as a pathogenic variant,
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659817 SCV000781676 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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