ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6315C>T (p.Gly2105=)

gnomAD frequency: 0.00009  dbSNP: rs528866215
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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) RCV000597874 SCV000708865 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV002532653 SCV001047270 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000597874 SCV001780894 likely benign not provided 2020-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927941 SCV004756773 likely benign EP300-related disorder 2023-10-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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