Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608521 | SCV000713271 | uncertain significance | not specified | 2017-05-31 | criteria provided, single submitter | clinical testing | The p.Thr3186Asn variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/152 24 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs201511311). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr3186Asn variant is uncertain. |
Invitae | RCV003767456 | SCV004620158 | likely benign | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing |