ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3426C>T (p.Cys1142=)

gnomAD frequency: 0.01549  dbSNP: rs76268515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145955 SCV000193097 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002514812 SCV001021246 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001657837 SCV001874643 benign not provided 2018-10-17 criteria provided, single submitter clinical testing

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