ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4026-7T>C

gnomAD frequency: 0.00012  dbSNP: rs187388966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728673 SCV000856276 benign not specified 2017-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520055 SCV001037888 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-23 criteria provided, single submitter clinical testing

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