ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2373G>A (p.Gln791=)

gnomAD frequency: 0.00004  dbSNP: rs398123737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080163 SCV000112058 uncertain significance not provided 2012-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055151 SCV002362721 likely benign Kabuki syndrome 2023-09-22 criteria provided, single submitter clinical testing

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