Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615108 | SCV000712407 | likely benign | not specified | 2016-08-16 | criteria provided, single submitter | clinical testing | p.Thr5240Ile in exon 74 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, elephants and aardvarks have a threonine (Thr) at this position despite h igh nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identifie d in 2/11552 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org) |
Gene |
RCV002509465 | SCV002818973 | uncertain significance | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002509465 | SCV003289405 | likely benign | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing |