Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039597 | SCV000063286 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Pro194His in Exon 06 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.7% (175/3054) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61745498). |
Gene |
RCV000039597 | SCV000168737 | benign | not specified | 2014-03-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000710453 | SCV000602444 | benign | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710453 | SCV000840675 | benign | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000039597 | SCV000193274 | likely benign | not specified | no assertion criteria provided | clinical testing |