Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155105 | SCV000204791 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Tyr1383Tyr 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 1/6636 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs138929990). |
Invitae | RCV000931870 | SCV001077546 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000931870 | SCV002012950 | likely benign | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000931870 | SCV004159108 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | ADGRV1: BP4, BP7 |
Prevention |
RCV003945232 | SCV004769936 | likely benign | ADGRV1-related condition | 2019-08-01 | 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). |