ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13629C>T (p.Asp4543=)

gnomAD frequency: 0.00003  dbSNP: rs748135755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000916201 SCV001776895 likely benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065885 SCV002454882 likely benign Kabuki syndrome 2023-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533519 SCV004750034 likely benign KMT2D-related disorder 2019-06-24 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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