Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039586 | SCV000063275 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ile155Val in Exon 05 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (23/3260) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS). |
Eurofins Ntd Llc |
RCV000039586 | SCV000341006 | likely benign | not specified | 2016-05-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001154050 | SCV001315370 | benign | Usher syndrome type 2C | 2025-04-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001516861 | SCV001725220 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001516861 | SCV001845038 | benign | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004549467 | SCV004726951 | likely benign | ADGRV1-related disorder | 2019-08-29 | 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). |