Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525828 | SCV000636537 | pathogenic | Bardet-Biedl syndrome | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser35*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 676 amino acid(s) of the BBS12 protein. This variant is present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20472660). ClinVar contains an entry for this variant (Variation ID: 462963). For these reasons, this variant has been classified as Pathogenic. |
Genetic Services Laboratory, |
RCV001821531 | SCV002066909 | pathogenic | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001834777 | SCV002794602 | likely pathogenic | Bardet-Biedl syndrome 12 | 2021-11-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001834777 | SCV004211702 | pathogenic | Bardet-Biedl syndrome 12 | 2023-03-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834777 | SCV002082473 | pathogenic | Bardet-Biedl syndrome 12 | 2021-01-26 | no assertion criteria provided | clinical testing |