ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9718C>T (p.Leu3240=)

gnomAD frequency: 0.00007  dbSNP: rs766458553
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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 RCV002109763 SCV002392938 likely benign Kabuki syndrome 2023-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883770 SCV004702899 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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