Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001888025 | SCV002122767 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001888025 | SCV003927747 | uncertain significance | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 does not alter protein structure/function |
Ce |
RCV001888025 | SCV005074622 | uncertain significance | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | COL2A1: PM5:Supporting |