Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001561078 | SCV001783610 | likely benign | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30115950) |
Ambry Genetics | RCV002414267 | SCV002673308 | benign | Cardiovascular phenotype | 2023-11-03 | 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. |
Fulgent Genetics, |
RCV002495895 | SCV002801236 | likely benign | Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 | 2022-05-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001561078 | SCV004156243 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | TNXB: BP4, BS2 |