ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) (rs145733598)

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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 RCV000120593 SCV000112946 benign not specified 2014-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120593 SCV000192844 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439802 SCV000511765 benign not provided 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715637 SCV000846467 benign History of neurodevelopmental disorder 2016-07-11 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001088835 SCV001096603 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120593 SCV000084747 not provided not specified 2013-09-19 no assertion provided reference population

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