Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039605 | SCV000063294 | likely benign | not specified | 2013-01-29 | criteria provided, single submitter | clinical testing | Ser2081Cys in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because serine (Ser) at position 2081 is not conserved in mammals or evolutionarily distant species and the change to cysteine (Cys) is present in ka ngaroo rat. In addition, this variant has been identified in 0.13%% (5/3702) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201210744) . |
Invitae | RCV001366393 | SCV001562694 | benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001366393 | SCV002107352 | likely benign | not provided | 2021-09-18 | criteria provided, single submitter | clinical testing |