Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001395430 | SCV001597140 | likely benign | Cholestanol storage disease | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377594 | SCV002684153 | likely benign | Cardiovascular phenotype | 2022-07-10 | 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. |
Clinical Genetics, |
RCV001796477 | SCV002034532 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001796476 | SCV002036362 | likely benign | not provided | no assertion criteria provided | clinical testing |