Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155933 | SCV000205645 | uncertain significance | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 1284+4C>T varia nt in USH1C has not been reported in individuals with hearing loss or in large p opulation studies. This variant is located in the 5' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. Although position +4 is part of the splice site region, the reference sequence was already divergent from consensus (normally an A at this position) and therefore this variant is less likely to di srupt splicing. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the arguments described above, we would lean towards a more likely benign role. |
Natera, |
RCV001826843 | SCV002084489 | uncertain significance | Usher syndrome type 1C | 2019-11-11 | no assertion criteria provided | clinical testing |