Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628695 | SCV000749601 | likely benign | Bloom syndrome | 2023-02-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002457976 | SCV002615408 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-12 | 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. |