Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000308663 | SCV000438890 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000883192 | SCV001862402 | benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002523231 | SCV002490060 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-10-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922496 | SCV004744632 | likely benign | EP300-related condition | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |