Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659343 | SCV000781154 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569344 | SCV001793405 | uncertain significance | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y 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 Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001569344 | SCV002470066 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing |