Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990455 | SCV001141446 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346243 | SCV004066593 | likely benign | Inborn genetic diseases | 2023-07-12 | 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. |
Invitae | RCV003638729 | SCV004453964 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003906125 | SCV004722497 | likely benign | EP300-related condition | 2022-02-21 | 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). |