ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4646A>T (p.Glu1549Val)

dbSNP: rs1943772853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561976 SCV001784673 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002568413 SCV003273877 likely benign Kabuki syndrome 2022-11-22 criteria provided, single submitter clinical testing

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