ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9739C>T (p.Leu3247=)

gnomAD frequency: 0.00002  dbSNP: rs374732657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066441 SCV002383595 likely benign Kabuki syndrome 2021-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721691 SCV005330376 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2D: BP4
PreventionGenetics, part of Exact Sciences RCV004535975 SCV004716796 likely benign KMT2D-related disorder 2021-04-02 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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