ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6729C>T (p.Gly2243=)

gnomAD frequency: 0.00008  dbSNP: rs765194008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177533 SCV000229417 benign not specified 2015-05-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177533 SCV000247297 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517715 SCV001021364 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001657957 SCV001872405 benign not provided 2020-01-17 criteria provided, single submitter clinical testing

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