ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3348G>A (p.Gln1116=) (rs20554)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145954 SCV000193096 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145954 SCV000307886 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358226 SCV000438854 benign Rubinstein-Taybi syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527189 SCV000660386 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing

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