ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val)

gnomAD frequency: 0.00068  dbSNP: rs200943206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954007 SCV001100609 likely benign Kabuki syndrome 2024-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001709698 SCV001936815 benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818988 SCV002072400 benign not specified 2019-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543592 SCV004764169 likely benign KMT2D-related disorder 2019-10-29 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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