ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.701G>A (p.Gly234Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV004595694 SCV004232739 likely benign Kabuki syndrome 1 2023-12-31 criteria provided, single submitter research The variant was functionally validated by DNA methylayion profiling using a previously reported Kabuki syndrome-specific episignature (PMID: 32109418)

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