ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4639G>A (p.Ala1547Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002602864 SCV003496371 likely benign Kabuki syndrome 2023-04-20 criteria provided, single submitter clinical testing
GeneDx RCV004725542 SCV005333581 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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