ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2019T>C (p.Pro673=) (rs2230110)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145950 SCV000193089 uncertain significance Rubinstein-Taybi syndrome 2 2013-03-04 criteria provided, single submitter clinical testing
Invitae RCV000945587 SCV001091622 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing

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