ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala)

gnomAD frequency: 0.00001  dbSNP: rs532360713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659800 SCV000781654 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003753151 SCV004538843 benign Kabuki syndrome 2023-09-05 criteria provided, single submitter clinical testing

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