ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe)

gnomAD frequency: 0.00016  dbSNP: rs587778471
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000121416 SCV000309637 likely benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659772 SCV000781624 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121416 SCV000856976 benign not specified 2017-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871702 SCV001013396 benign Kabuki syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001657765 SCV001881044 benign not provided 2019-10-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
ITMI RCV000121416 SCV000085607 not provided not specified 2013-09-19 no assertion provided reference population

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