ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5440A>G (p.Arg1814Gly)

gnomAD frequency: 0.00002  dbSNP: rs574854514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002591923 SCV003494858 benign Kabuki syndrome 2024-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540568 SCV004756881 likely benign KMT2D-related disorder 2023-07-13 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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