ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)

gnomAD frequency: 0.00106  dbSNP: rs113282510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080157 SCV000112052 uncertain significance not provided 2013-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000304834 SCV001020859 benign Kabuki syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000080157 SCV001942591 benign not provided 2019-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000080157 SCV004130828 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004537343 SCV004728234 likely benign KMT2D-related disorder 2021-04-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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