ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2053+8G>T

gnomAD frequency: 0.96326  dbSNP: rs6002267
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079669 SCV000111552 benign not specified 2014-01-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079669 SCV000193090 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079669 SCV000307880 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001664276 SCV001718727 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664277 SCV001876040 benign Menke-Hennekam syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664276 SCV001876041 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001675606 SCV001892321 benign not provided 2018-07-03 criteria provided, single submitter clinical testing

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