Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601433 | SCV000713450 | likely benign | not specified | 2017-07-25 | criteria provided, single submitter | clinical testing | p.Ala2184Ala in exon 30 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loca ted within the splice consensus sequence. It has been identified in 3/244960 of the total chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs763086961). |
Invitae | RCV002065201 | SCV002484899 | likely benign | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing |