Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613842 | SCV000731451 | uncertain significance | not specified | 2017-02-02 | criteria provided, single submitter | clinical testing | The p.Gln6042Arg variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 2/66584 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs764963960). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Com putational prediction tools and conservation analysis suggest that the p.Gln6042 Arg variant may not impact the protein, though this information is not predictiv e enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln6042Arg variant is uncertain. |
Invitae | RCV003767743 | SCV004637711 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |