ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3996C>T (p.Thr1332=)

dbSNP: rs142288817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053396 SCV002427242 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913775 SCV004733811 likely benign EP300-related disorder 2021-10-18 no assertion criteria provided 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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