ClinVar Miner

Submissions for variant NM_004456.4(EZH2):c.553G>C (p.Asp185His) (rs2302427)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120897 SCV000231687 benign not specified 2014-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000120897 SCV000168398 benign not specified 2014-03-11 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.
Genetic Services Laboratory, University of Chicago RCV000120897 SCV000193125 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000120897 SCV000085065 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000336525 SCV000467481 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120897 SCV000310393 benign not specified criteria provided, single submitter clinical testing

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