ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12205C>A (p.Leu4069Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003391778 SCV004130718 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing KMT2D: PM2, PP2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003778384 SCV004659529 likely benign Kabuki syndrome 2023-07-17 criteria provided, single submitter clinical testing

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