ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6481A>G (p.Met2161Val)

gnomAD frequency: 0.00029  dbSNP: rs188035979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120718 SCV000193104 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002517585 SCV001092354 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001554913 SCV001776246 likely benign not provided 2020-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498559 SCV002807650 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2021-09-29 criteria provided, single submitter clinical testing
ITMI RCV000120718 SCV000084880 not provided not specified 2013-09-19 no assertion provided reference population

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