ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2998-12G>A

gnomAD frequency: 0.00836  dbSNP: rs115849119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145953 SCV000193094 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001577098 SCV001804424 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145953 SCV002400825 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-30 criteria provided, single submitter clinical testing

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