Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001608705 | SCV001833083 | benign | not provided | 2019-01-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002276843 | SCV002566279 | likely benign | Ehlers-Danlos syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343782 | SCV002652998 | likely benign | Cardiovascular phenotype | 2022-12-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Fulgent Genetics, |
RCV002506704 | SCV002810187 | likely benign | Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 | 2021-08-27 | criteria provided, single submitter | clinical testing |