Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253463 | SCV000313350 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Mendelics | RCV000987672 | SCV001137086 | benign | Ehlers-Danlos syndrome due to tenascin-X deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618458 | SCV001845718 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000987672 | SCV002098623 | benign | Ehlers-Danlos syndrome due to tenascin-X deficiency | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001838592 | SCV002098624 | benign | Vesicoureteral reflux 8 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356351 | SCV002660482 | benign | Cardiovascular phenotype | 2018-12-17 | 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. |