ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)

gnomAD frequency: 0.00112  dbSNP: rs147676363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000120725 SCV000859177 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV002515849 SCV001096913 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001640106 SCV001860666 benign not provided 2020-02-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
CeGaT Center for Human Genetics Tuebingen RCV001640106 SCV004153128 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EP300: BS1
ITMI RCV000120725 SCV000084888 not provided not specified 2013-09-19 no assertion provided reference population

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