ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)

gnomAD frequency: 0.00072  dbSNP: rs145714752
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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) RCV000120709 SCV000335126 benign not specified 2015-09-08 criteria provided, single submitter clinical testing
Invitae RCV002515840 SCV001020736 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001709491 SCV001938756 benign not provided 2019-09-10 criteria provided, single submitter clinical testing
ITMI RCV000120709 SCV000084870 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000120709 SCV003839469 benign not specified 2022-12-05 no assertion criteria provided clinical testing

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