Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724619 | SCV000230822 | uncertain significance | not provided | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000222142 | SCV000270222 | likely benign | not specified | 2016-04-08 | criteria provided, single submitter | clinical testing | p.Gly3441Gly in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 4/66680 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs373354231). |
Invitae | RCV000724619 | SCV002392469 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing |