ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2499G>A (p.Ser833=)

gnomAD frequency: 0.01700  dbSNP: rs35560602
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079672 SCV000111555 benign not specified 2013-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514400 SCV000650100 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001675607 SCV001893240 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490693 SCV002804231 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2022-05-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675607 SCV005278893 benign not provided criteria provided, single submitter not provided

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