ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)

gnomAD frequency: 0.00014  dbSNP: rs201127814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146149 SCV000193369 uncertain significance Kabuki syndrome 1 2013-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055892 SCV002389751 likely benign Kabuki syndrome 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV002225451 SCV002504541 likely benign not provided 2020-02-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004544339 SCV004758220 likely benign KMT2D-related disorder 2023-11-21 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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