Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219154 | SCV000271816 | uncertain significance | not specified | 2015-06-19 | criteria provided, single submitter | clinical testing | The c.-26_-9del in the 5' UTR of GPR98 has not previously been identified in ind ividual's with hearing loss, but has been identified in 6/8296 European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 5' untranslated region (UTR) and variants in regulatory regions could have an effe ct on transcriptional or translational efficiency. In summary, the clinical sign ificance of the c.-26_-9del variant is uncertain. |
Prevention |
RCV004547520 | SCV004747643 | likely benign | ADGRV1-related disorder | 2020-07-31 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |