ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)

gnomAD frequency: 0.00003  dbSNP: rs398123756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723594 SCV000112102 uncertain significance not provided 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146228 SCV000193468 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084575 SCV001092381 likely benign Kabuki syndrome 2025-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723594 SCV004563345 likely benign not provided 2023-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537351 SCV004743295 likely benign KMT2D-related disorder 2019-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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