Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001575782 | SCV001802842 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002276810 | SCV002565206 | likely benign | Ehlers-Danlos syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386468 | SCV002694206 | benign | Cardiovascular phenotype | 2019-05-29 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome Diagnostics Laboratory, |
RCV001575782 | SCV001808136 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001575782 | SCV001932829 | likely benign | not provided | no assertion criteria provided | clinical testing |