ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.984G>A (p.Ala328=)

gnomAD frequency: 0.00010  dbSNP: rs760364650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000877950 SCV001902690 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064897 SCV002363063 likely benign Kabuki syndrome 2024-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530878 SCV004714437 likely benign KMT2D-related disorder 2021-04-01 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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