Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198877 | SCV001369872 | likely pathogenic | Vitelliform macular dystrophy 2 | 2018-10-15 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Labcorp Genetics |
RCV001388531 | SCV001589534 | pathogenic | not provided | 2021-01-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs759410076, ExAC 0.004%). This sequence change creates a premature translational stop signal (p.Glu482Asnfs*14) in the BEST1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BEST1-related conditions. ClinVar contains an entry for this variant (Variation ID: 931891). Loss-of-function variants in BEST1 are known to be pathogenic (PMID: 21825197). For these reasons, this variant has been classified as Pathogenic. |
MGZ Medical Genetics Center | RCV002290633 | SCV002579399 | likely pathogenic | Autosomal dominant vitreoretinochoroidopathy | 2021-08-02 | criteria provided, single submitter | clinical testing |