Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002237103 | SCV001198168 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585933 | SCV001812996 | uncertain significance | not provided | 2022-07-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with a COL5A1-related disorder to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Symoens et al., 2012; HGMD).; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34183866) |