Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220120 | SCV000270239 | likely benign | not specified | 2016-01-03 | criteria provided, single submitter | clinical testing | p.Asn820Ser in exon 13 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, four mammals have a Serine (Ser) at this position. In addition, it has bee n identified in 24/9798 (0.24%) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org;dbSNP rs144918959). |
Eurofins Ntd Llc |
RCV000726241 | SCV000343121 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726241 | SCV001232440 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726241 | SCV001817926 | likely benign | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing |