ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)

gnomAD frequency: 0.00001  dbSNP: rs745599611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516233 SCV000613936 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
New York Genome Center RCV001542416 SCV001761115 uncertain significance Kabuki syndrome 1 2020-07-10 criteria provided, single submitter clinical testing
GeneDx RCV002473031 SCV002770155 uncertain significance not provided 2022-06-24 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 RCV002525046 SCV003253329 benign Kabuki syndrome 2023-09-08 criteria provided, single submitter clinical testing

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