ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10294T>C (p.Leu3432=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003061100 SCV003456843 benign Kabuki syndrome 2024-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883869 SCV004703476 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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