ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg)

gnomAD frequency: 0.00001  dbSNP: rs371231725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785108 SCV000923668 uncertain significance Kabuki syndrome 1 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535721 SCV003296212 benign Kabuki syndrome 2022-06-26 criteria provided, single submitter clinical testing

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