Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV001825408 | SCV006314457 | uncertain significance | Bardet-Biedl syndrome 12 | 2024-09-11 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV001825408 | SCV002815794 | likely pathogenic | Bardet-Biedl syndrome 12 | 2024-04-02 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001779068 | SCV002015821 | uncertain significance | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30614526, 31589614) |
| Labcorp Genetics |
RCV000735938 | SCV001413124 | likely pathogenic | Bardet-Biedl syndrome | 2026-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the BBS12 protein (p.Phe22Ser). This variant is present in population databases (rs565073445, gnomAD 0.006%). This missense change has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 30614526; internal data). ClinVar contains an entry for this variant (Variation ID: 585191). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BBS12 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Natera, |
RCV001825408 | SCV002082469 | uncertain significance | Bardet-Biedl syndrome 12 | 2020-09-29 | no assertion criteria provided | clinical testing | |
| Laboratory of Medical Genetics |
RCV000735938 | SCV000839578 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |