ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2380-18T>C

gnomAD frequency: 0.00028  dbSNP: rs189468196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595685 SCV001829982 benign not provided 2021-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501963 SCV002802586 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2022-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002592507 SCV003516230 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-08-09 criteria provided, single submitter clinical testing

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