ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7012G>A (p.Val2338Ile)

gnomAD frequency: 0.00003  dbSNP: rs751524258
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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 RCV002066354 SCV002441924 likely benign Kabuki syndrome 2022-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584835 SCV005074614 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing KMT2D: BP4
PreventionGenetics, part of Exact Sciences RCV004543595 SCV004797627 likely benign KMT2D-related disorder 2022-11-11 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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