ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7926C>T (p.Val2642=)

gnomAD frequency: 0.00001  dbSNP: rs368249592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593788 SCV001816956 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072330 SCV002357045 likely benign Kabuki syndrome 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542034 SCV004786092 likely benign KMT2D-related disorder 2021-08-31 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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