Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826070 | SCV000967564 | uncertain significance | not specified | 2018-08-07 | criteria provided, single submitter | clinical testing | The p.Pro667Leu variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 2/32140 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org). Computational prediction tools and conservation analysis suggest that the p.Pro667Leu variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the p.Pro667Leu variant is uncertain. ACMG/AMP Criteria applied: PM2, B P4. |
Gene |
RCV002249534 | SCV002520104 | uncertain significance | not provided | 2022-05-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |