Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012306 | SCV001172739 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-08 | 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 | RCV001439359 | SCV001642244 | likely benign | Retinoblastoma | 2023-03-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003393781 | SCV004133121 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | RB1: PM2:Supporting, BP4, BP7 |