ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.730-18_730-9del

dbSNP: rs61120041
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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) RCV000079682 SCV000111565 benign not specified 2013-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079682 SCV000307894 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371284 SCV000438814 benign Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514403 SCV000650104 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001689625 SCV001910245 benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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