ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) (rs148884710)

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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 RCV000120708 SCV000226076 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000445350 SCV000511290 benign not provided 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV001080710 SCV001020685 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000294667 SCV001141440 likely benign Rubinstein-Taybi syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120708 SCV000084869 not provided not specified 2013-09-19 no assertion provided reference population

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