Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV000670273 | SCV005664827 | likely pathogenic | Bardet-Biedl syndrome 12 | 2024-03-21 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000670273 | SCV004211656 | pathogenic | Bardet-Biedl syndrome 12 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001861789 | SCV002213800 | pathogenic | Bardet-Biedl syndrome | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr458Asnfs*5) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 253 amino acid(s) of the BBS12 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 554604). This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Gln685*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Counsyl | RCV000670273 | SCV000795107 | likely pathogenic | Bardet-Biedl syndrome 12 | 2017-10-27 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |