ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.711G>A (p.Glu237=)

gnomAD frequency: 0.00036  dbSNP: rs192397485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001621233 SCV001845446 benign not provided 2020-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072925 SCV002357102 benign Kabuki syndrome 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542047 SCV004758780 likely benign KMT2D-related disorder 2021-01-13 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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