Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615823 | SCV000731669 | likely benign | not specified | 2017-05-31 | criteria provided, single submitter | clinical testing | p.Thr3159Thr in exon 44 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 1/30750 Sout h Asian and 1/33510 Latino chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org; dbSNP rs777032531). |
Invitae | RCV003767746 | SCV004632344 | likely benign | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing |