ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu)

gnomAD frequency: 0.00026  dbSNP: rs370492566
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950569 SCV001096893 likely benign Kabuki syndrome 2023-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001636681 SCV001851184 benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121375 SCV002065065 likely benign not specified 2021-02-19 criteria provided, single submitter clinical testing
ITMI RCV000121375 SCV000085558 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004530007 SCV004745679 likely benign KMT2D-related disorder 2023-01-03 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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