Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213721 | SCV000270243 | likely benign | not specified | 2015-07-01 | criteria provided, single submitter | clinical testing | p.Phe1779Phe in exon 25 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 1/12292 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org). |