Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316910 | SCV000850734 | likely benign | Inborn genetic diseases | 2016-06-08 | 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 |
RCV001592922 | SCV001822774 | likely benign | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002534960 | SCV003022812 | benign | Rubinstein-Taybi syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938086 | SCV004754592 | likely benign | CREBBP-related condition | 2022-05-16 | 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). |