Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000363829 | SCV000384538 | likely benign | Retinoblastoma | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574026 | SCV000674708 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-06 | 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 |
RCV000843883 | SCV000985928 | likely benign | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000843883 | SCV001961411 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | RB1: BP4, BS2 |
Invitae | RCV000363829 | SCV002435249 | benign | Retinoblastoma | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000574026 | SCV002530859 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-10 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469125 | SCV002766017 | benign | not specified | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940208 | SCV004750591 | likely benign | RB1-related disorder | 2021-12-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV000363829 | SCV004819162 | benign | Retinoblastoma | 2024-02-05 | criteria provided, single submitter | clinical testing |