Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155119 | SCV000204805 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ala5957Ala in Exon 84 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, and has been identified in 0.1% (2/3100) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). |
Invitae | RCV001417046 | SCV001619241 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |