ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1240+9C>A

gnomAD frequency: 0.00121  dbSNP: rs114320893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122398 SCV000512951 benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000634026 SCV000755303 benign Weaver syndrome 2025-01-30 criteria provided, single submitter clinical testing
ITMI RCV000122398 SCV000083949 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004542923 SCV004778023 benign EZH2-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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