Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004012719 | SCV004843731 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004759374 | SCV005370919 | uncertain significance | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | 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 (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |