Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825101 | SCV000966355 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Asn3431Asn in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/9798 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs763452527). |
Invitae | RCV001488599 | SCV001693122 | likely benign | not provided | 2023-12-24 | criteria provided, single submitter | clinical testing |