Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000470099 | SCV000553777 | pathogenic | Bardet-Biedl syndrome | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 412283). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser7Ilefs*9) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). |
| Blueprint Genetics | RCV001075560 | SCV001241187 | likely pathogenic | Retinal dystrophy | 2019-01-03 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001562726 | SCV001785536 | pathogenic | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Counsyl | RCV000984150 | SCV001132133 | likely pathogenic | Bardet-Biedl syndrome 1 | 2015-09-22 | no assertion criteria provided | clinical testing |