ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3348G>A (p.Gln1116=)

gnomAD frequency: 0.04022  dbSNP: rs20554
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145954 SCV000193096 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145954 SCV000307886 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002515961 SCV000660386 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001594854 SCV001827982 benign not provided 2018-07-27 criteria provided, single submitter clinical testing

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