Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000710434 | SCV000343773 | uncertain significance | not provided | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000376440 | SCV000711060 | likely benign | not specified | 2017-01-12 | criteria provided, single submitter | clinical testing | p.Gln5059His 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, three mammals (Alpaca, Bactrian camel, Cape elephant shrew) have a histid ine (His) at this position. It has been identified in 0.2% (16/9634) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs201416399). |
Athena Diagnostics Inc | RCV000710434 | SCV000840650 | uncertain significance | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710434 | SCV001696055 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710434 | SCV001792319 | likely benign | not provided | 2020-01-31 | criteria provided, single submitter | clinical testing |