Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039506 | SCV000063195 | benign | not specified | 2012-03-26 | criteria provided, single submitter | clinical testing | Arg3536His in exon 51 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.12% (8/660) of Europea n American chromosomes and 1.1% (33/3068) of African American chromosomes in a b road population by the NHLBI Exome sequencing project (http://evs.gs.washington. edu/EVS/; rs144618536). |
Invitae | RCV000905369 | SCV001049948 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000905369 | SCV001960185 | benign | not provided | 2018-09-27 | criteria provided, single submitter | clinical testing |