ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser)

gnomAD frequency: 0.00001  dbSNP: rs943690439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002279000 SCV002567468 uncertain significance not provided 2022-02-17 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003774916 SCV004692963 benign Kabuki syndrome 2023-08-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992623 SCV004809379 uncertain significance Kabuki syndrome 1 2024-04-04 criteria provided, single submitter clinical testing

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