ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6951G>A (p.Arg2317=)

gnomAD frequency: 0.00035  dbSNP: rs139551099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002523232 SCV001098046 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001672614 SCV001891754 benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502315 SCV002805643 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2021-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672614 SCV004153146 benign not provided 2024-01-01 criteria provided, single submitter clinical testing EP300: BP4, BP7, BS1, BS2

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