Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628718 | SCV000749624 | likely benign | Bloom syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420669 | SCV002720361 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-24 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478341 | SCV004222443 | likely benign | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000628718 | SCV002089897 | likely benign | Bloom syndrome | 2018-06-30 | no assertion criteria provided | clinical testing |