ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14253C>T (p.Val4751=)

gnomAD frequency: 0.00001  dbSNP: rs754623221
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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 RCV002084045 SCV002426404 likely benign Kabuki syndrome 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531431 SCV004710438 likely benign KMT2D-related disorder 2021-07-26 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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