Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611164 | SCV000712312 | uncertain significance | not specified | 2016-06-21 | criteria provided, single submitter | clinical testing | The p.Gly4068Arg variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 2/9648 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs760011091). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Gly4068Arg is uncertain. |