Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163551 | SCV000214109 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-05 | 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. |
Invitae | RCV000163551 | SCV000559085 | likely benign | Hereditary cancer-predisposing syndrome | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886382 | SCV004702337 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | RAD50: BP4, BP7 |