Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703566 | SCV000517097 | likely benign | not provided | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000543910 | SCV000630818 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000432428 | SCV001880324 | likely benign | not specified | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436257 | SCV002749938 | likely benign | Cardiovascular phenotype | 2018-11-26 | 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. |