Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825100 | SCV000966354 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | c.10161+9C>A in intron 48 of GPR98: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.02% (4/16504 ) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs537317888). |
Invitae | RCV003698819 | SCV004464707 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing |