ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2131+18T>A

gnomAD frequency: 0.02398  dbSNP: rs9611506
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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) RCV000079670 SCV000111553 benign not specified 2014-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079670 SCV000307881 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610361 SCV001835941 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515763 SCV002475089 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610361 SCV005278887 benign not provided criteria provided, single submitter not provided

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