Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155103 | SCV000204789 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Glu1247Glu in Exon 20 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/6686 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). |
Invitae | RCV001511238 | SCV001718448 | benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927501 | SCV004745676 | likely benign | ADGRV1-related condition | 2019-09-09 | criteria provided, single submitter | 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). |