ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.95-16T>C

gnomAD frequency: 0.04095  dbSNP: rs5758235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243725 SCV000307895 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001668475 SCV001883825 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV002518612 SCV002494786 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-02-01 criteria provided, single submitter clinical testing

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