Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650157 | SCV000771994 | likely benign | Usher syndrome type 3B | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565512 | SCV001788871 | likely benign | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002461966 | SCV002755237 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |
Ce |
RCV001565512 | SCV004185308 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | HARS1: BP4 |
Prevention |
RCV003953173 | SCV004775923 | likely benign | HARS1-related condition | 2020-02-18 | 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). |