ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4162C>T (p.Arg1388Trp)

gnomAD frequency: 0.00002  dbSNP: rs767110613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658922 SCV001874147 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003753190 SCV004550323 likely benign Kabuki syndrome 2023-10-15 criteria provided, single submitter clinical testing

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