Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724092 | SCV000230600 | uncertain significance | not provided | 2014-07-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000178509 | SCV000711049 | likely benign | not specified | 2016-08-24 | criteria provided, single submitter | clinical testing | p.Asn3028Ser in exon 42 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (18/2968) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150549897). |
Labcorp Genetics |
RCV000724092 | SCV001699203 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724092 | SCV001782492 | likely benign | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553008 | SCV004744254 | likely benign | ADGRV1-related disorder | 2024-01-03 | 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). |