ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7479G>A (p.Gly2493=)

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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 RCV002766309 SCV003027942 likely benign Kabuki syndrome 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395514 SCV004130765 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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