Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002276196 | SCV002564033 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | SMARCA2: BP4 |
Ambry Genetics | RCV002443289 | SCV002732648 | likely benign | Inborn genetic diseases | 2017-08-14 | 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. |
Labcorp Genetics |
RCV002276196 | SCV003454055 | benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003896105 | SCV004721524 | likely benign | SMARCA2-related disorder | 2019-08-12 | 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). |