ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)

gnomAD frequency: 0.00124  dbSNP: rs201931833
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000177545 SCV000193465 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177545 SCV000229430 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000177545 SCV000309627 likely benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659740 SCV000781589 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000289783 SCV001012526 likely benign Kabuki syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001705946 SCV001868883 benign not provided 2019-10-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29627316, 30459467, 30107592)
CeGaT Center for Human Genetics Tuebingen RCV001705946 SCV004130773 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KMT2D: BS1

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