Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000990247 | SCV000558761 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573414 | SCV000671062 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-02 | 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 | RCV000759963 | SCV000889687 | likely benign | not provided | 2018-07-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990247 | SCV001141132 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000573414 | SCV002534680 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-08 | criteria provided, single submitter | curation |