Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473310 | SCV000558671 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572667 | SCV000671188 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-05 | 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. |
Gene |
RCV001568966 | SCV001792932 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25303977) |