Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155654 | SCV000205363 | uncertain significance | not specified | 2013-05-07 | criteria provided, single submitter | clinical testing | The Ala5908Thr variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant. |
Invitae | RCV003764954 | SCV004627040 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |