Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607100 | SCV000711057 | likely benign | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | p.Thr4963Thr in Exon 73 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 4/65446 of Europea n chromosomes, 1/9530 of African chromosomes, and 1/8198 of East Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs370103595). |
Invitae | RCV001411938 | SCV001614010 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing |