Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514566 | SCV000610245 | likely benign | not provided | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316461 | SCV000849476 | benign | Inborn genetic diseases | 2017-05-03 | 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. |
Invitae | RCV000514566 | SCV001034488 | benign | not provided | 2018-12-05 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000514566 | SCV001799261 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727737 | SCV001968498 | benign | not specified | no assertion criteria provided | clinical testing |