ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5061+10G>A

gnomAD frequency: 0.00135  dbSNP: rs78432056
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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 RCV000145957 SCV000193099 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2013-03-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177453 SCV000229312 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145957 SCV001098756 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001689683 SCV001911809 benign not provided 2020-07-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001689683 SCV004153127 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing EP300: BS1

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