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: 4
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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
Invitae RCV002523231 SCV002490060 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922496 SCV004744632 likely benign EP300-related condition 2019-05-14 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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