ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=)

gnomAD frequency: 0.00026  dbSNP: rs200803613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945886 SCV001091952 likely benign Kabuki syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001585877 SCV001820716 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818929 SCV002066950 likely benign not specified 2017-09-06 criteria provided, single submitter clinical testing

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