Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153118 | SCV000202577 | uncertain significance | not provided | 2014-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514951 | SCV001097764 | likely benign | Rubinstein-Taybi syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000153118 | SCV002585544 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4, BS2 |
Prevention |
RCV003917495 | SCV004736206 | likely benign | CREBBP-related condition | 2021-11-03 | 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). |