ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4687C>T (p.Leu1563=)

dbSNP: rs564848230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794648 SCV002032509 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541273 SCV003296187 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941132 SCV004755527 likely benign EP300-related disorder 2023-11-17 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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