ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3030C>G (p.Thr1010=)

dbSNP: rs148414681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345929 SCV000332168 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV002518816 SCV001100975 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001610771 SCV001837469 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920038 SCV004728676 benign EP300-related condition 2021-06-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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