Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Services, |
RCV000186504 | SCV000222739 | uncertain significance | Ehlers-Danlos syndrome due to tenascin-X deficiency | 2015-01-01 | criteria provided, single submitter | research | |
Gene |
RCV001731502 | SCV001983207 | uncertain significance | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified previously in conjunction with a fusion event involving TNXB and TNXA in individuals with a phenotype of congenital adrenal hyperplasia and hypermobile Ehlers-Danlos syndrome (Morissette et al., 2015; Demirdas et al., 2017); This variant is associated with the following publications: (PMID: 26075496, 31141158, 32572181, 31229653, 27582382) |