ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2989A>G (p.Ile997Val) (rs20551)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079673 SCV000111556 benign not specified 2014-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079673 SCV000193093 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079673 SCV000307884 benign not specified criteria provided, single submitter clinical testing
ITMI RCV000079673 SCV000084871 not provided not specified 2013-09-19 no assertion provided reference population

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