Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316820 | SCV000850576 | likely benign | Inborn genetic diseases | 2017-04-05 | 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. |
Gene |
RCV001585678 | SCV001819714 | likely benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533041 | SCV003251205 | likely benign | Rubinstein-Taybi syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938084 | SCV004750169 | likely benign | CREBBP-related condition | 2022-04-05 | 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). |