Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075294 | SCV000106287 | likely benign | Lynch syndrome | 2018-10-18 | reviewed by expert panel | curation | Synonymous variant shown to not cause splicing abberation |
Invitae | RCV000524245 | SCV000260400 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012597 | SCV001173069 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-14 | 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. |