ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6912C>T (p.Ser2304=)

gnomAD frequency: 0.00006  dbSNP: rs113329190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308663 SCV000438890 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000883192 SCV001862402 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523231 SCV002490060 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883192 SCV005206528 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003922496 SCV004744632 likely benign EP300-related disorder 2019-05-14 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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