Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213746 | SCV000270240 | likely benign | not specified | 2015-01-30 | criteria provided, single submitter | clinical testing | p.Leu1272Leu in exon 20 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 2/11478 of Latin o chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs202004141). |
Invitae | RCV002057108 | SCV002336267 | likely benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing |