ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln)

gnomAD frequency: 0.00001  dbSNP: rs199980307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822319 SCV002066472 likely benign not specified 2019-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885316 SCV002129786 benign Kabuki syndrome 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536335 SCV004104100 likely benign KMT2D-related disorder 2023-10-18 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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