ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp)

gnomAD frequency: 0.00001  dbSNP: rs587783726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146227 SCV000193467 uncertain significance Kabuki syndrome 1 2013-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001338541 SCV001532220 benign Kabuki syndrome 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691765 SCV005191803 uncertain significance not provided criteria provided, single submitter not provided

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