Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000612353 | SCV000731531 | likely benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | p.Thr4000Met in exon 58 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, more than 10 mammals (including gibbon, elephant, and cape elephant shrew ) have a methionine (Met) at this position despite high nearby amino acid conser vation. In addition, computational prediction tools do not suggest a high likeli hood of impact to the protein. It has been identified in 3/16124 of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs758506587). |
Invitae | RCV002528775 | SCV002970385 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing |