ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1884C>G (p.Gly628=)

gnomAD frequency: 0.00012  dbSNP: rs61732846
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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 RCV000145973 SCV000193119 uncertain significance Weaver syndrome 2013-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145973 SCV001718260 benign Weaver syndrome 2023-09-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992196 SCV004810972 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing EZH2: BP4, BP7, BS1

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