ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=)

gnomAD frequency: 0.00001  dbSNP: rs747438612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803486 SCV002048112 likely benign Kabuki syndrome 1 2021-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541349 SCV003495307 benign Kabuki syndrome 2023-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394259 SCV004130734 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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