Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002393953 | SCV002672050 | likely benign | Inborn genetic diseases | 2022-03-04 | 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. |
Ce |
RCV003439007 | SCV004148486 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BP7 |
Invitae | RCV003439007 | SCV004277604 | likely benign | not provided | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003896148 | SCV004712664 | likely benign | ATR-related disorder | 2023-06-13 | 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). |