ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln)

gnomAD frequency: 0.00024  dbSNP: rs201078160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988833 SCV001138719 benign Kabuki syndrome 1 2023-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433620 SCV001636411 likely benign Kabuki syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000887516 SCV001859957 benign not provided 2020-04-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30107592, 30459467, 24633898)
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development RCV000988833 SCV003930342 benign Kabuki syndrome 1 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530944 SCV004734489 likely benign KMT2D-related disorder 2023-06-14 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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