Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878353 | SCV001021245 | benign | Rubinstein-Taybi syndrome | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495330 | SCV002795507 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908363 | SCV004729268 | likely benign | CREBBP-related condition | 2022-08-16 | 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). |