Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547053 | SCV000625765 | benign | DiGeorge syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573413 | SCV001833105 | benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28272434) |
Ambry Genetics | RCV002323913 | SCV002608909 | likely benign | Cardiovascular phenotype | 2018-01-25 | 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. |
Revvity Omics, |
RCV001573413 | SCV003827066 | uncertain significance | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573413 | SCV001799265 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573413 | SCV001972459 | likely benign | not provided | no assertion criteria provided | clinical testing |