Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV001269285 | SCV001448629 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001269285 | SCV001529732 | likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2018-02-06 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |