Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002476436 | SCV002791587 | uncertain significance | Brachydactyly type B1; Autosomal recessive Robinow syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002545032 | SCV002932188 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ROR2 protein function. ClinVar contains an entry for this variant (Variation ID: 1012278). This missense change has been observed in individual(s) with clinical features of ROR2-related conditions (PMID: 33937263). This variant is present in population databases (rs370882834, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 101 of the ROR2 protein (p.Pro101Leu). |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV001310267 | SCV001499877 | uncertain significance | Short stature | 2021-01-31 | no assertion criteria provided | research |