Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039613 | SCV000063302 | uncertain significance | not specified | 2013-03-06 | criteria provided, single submitter | clinical testing | The Glu230Asp variant in GPR98 has not been described in the literature nor prev iously reported by our laboratory. It has also not been identified in large Euro pean American and African American populations sequenced by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sug gest that the Glu230Asp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional info rmation is needed to fully assess the clinical significance of the Glu230Asp var iant. |
Invitae | RCV003688825 | SCV004451605 | likely benign | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003688825 | SCV004562437 | uncertain significance | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing |