ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) (rs1046088)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079681 SCV000111564 benign not specified 2013-03-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079681 SCV000307893 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343626 SCV000438888 likely benign Rubinstein-Taybi syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541192 SCV000650102 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000079681 SCV000084881 not provided not specified 2013-09-19 no assertion provided reference population

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