Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585447 | SCV000693363 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000585447 | SCV000842254 | likely benign | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000585447 | SCV001043204 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000585447 | SCV001912942 | benign | not provided | 2020-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331001 | SCV002629390 | benign | Inborn genetic diseases | 2017-10-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000585447 | SCV001957081 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000585447 | SCV001965953 | likely benign | not provided | no assertion criteria provided | clinical testing |