ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) (rs533875300)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000394928 SCV000438889 likely benign Rubinstein-Taybi syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514498 SCV000609687 likely benign not provided 2017-08-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120717 SCV000702442 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV001086988 SCV001098111 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000394928 SCV001141448 likely benign Rubinstein-Taybi syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120717 SCV000084879 not provided not specified 2013-09-19 no assertion provided reference population
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV001027440 SCV001189999 pathogenic Rubinstein-Taybi syndrome 2 2019-11-05 no assertion criteria provided clinical testing

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