Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611881 | SCV000712518 | uncertain significance | not specified | 2016-10-18 | criteria provided, single submitter | clinical testing | The c.1450-10G>A variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome. It has been identified in 4/66404 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs751220612); however, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computat ional tools do not suggest an impact to splicing. However, this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the c.1450-10G>A variant is uncertain. |
Invitae | RCV000928707 | SCV001074322 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000985224 | SCV001133255 | uncertain significance | Usher syndrome type 1D | 2019-09-26 | no assertion criteria provided | clinical testing |