ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)

gnomAD frequency: 0.00006  dbSNP: rs752477959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992308 SCV001144514 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Invitae RCV001858748 SCV002159084 benign Kabuki syndrome 2023-12-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV003447569 SCV004175291 uncertain significance Kabuki syndrome 1 2019-07-30 criteria provided, single submitter clinical testing

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