ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser)

gnomAD frequency: 0.00008  dbSNP: rs137935821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598296 SCV001831555 benign not provided 2021-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405738 SCV004111893 likely benign EP300-related disorder 2024-02-20 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).
Invitae RCV003638799 SCV004374274 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-21 criteria provided, single submitter clinical testing

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