ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13465G>A (p.Gly4489Arg)

gnomAD frequency: 0.00009  dbSNP: rs200574556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518659 SCV000613933 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857908 SCV002286441 likely benign Kabuki syndrome 2023-12-06 criteria provided, single submitter clinical testing

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