Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768114 | SCV000899039 | uncertain significance | Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 | 2021-03-30 | criteria provided, single submitter | clinical testing | TNXB NM_019105.6 exon 15 p.Phe1806Leu (c.5416T>C): This variant has not been reported in the literature but is present in 50/126170 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs184813324). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV001585692 | SCV001820698 | uncertain significance | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |