Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001756480 | SCV001985268 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001882821 | SCV002289745 | likely benign | Rubinstein-Taybi syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496068 | SCV002780558 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2022-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539869 | SCV003721540 | likely benign | Inborn genetic diseases | 2022-03-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Prevention |
RCV003931312 | SCV004753969 | likely benign | CREBBP-related disorder | 2023-10-25 | 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). |
Ce |
RCV001756480 | SCV005050242 | uncertain significance | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing |