ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13019A>T (p.His4340Leu)

dbSNP: rs770911238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767898 SCV001999720 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003772001 SCV004630652 likely benign Kabuki syndrome 2024-01-20 criteria provided, single submitter clinical testing

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