Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176670 | SCV000228361 | likely benign | not specified | 2014-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000871285 | SCV001012908 | benign | Rubinstein-Taybi syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651041 | SCV001862704 | benign | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326966 | SCV002627489 | likely benign | Inborn genetic diseases | 2017-12-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002503675 | SCV002810616 | benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977438 | SCV004800670 | likely benign | CREBBP-related condition | 2021-06-17 | 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). |