Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000781996 | SCV000920453 | benign | Lynch syndrome | 2018-10-18 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability < 0.001 (0.0007) |
Color Diagnostics, |
RCV000774955 | SCV000909043 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774955 | SCV001189545 | likely benign | Hereditary cancer-predisposing syndrome | 2023-05-17 | 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. |
Invitae | RCV002536693 | SCV003496815 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003461034 | SCV004196223 | uncertain significance | Lynch syndrome 1 | 2023-10-02 | criteria provided, single submitter | clinical testing |