Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146072 | SCV000193249 | uncertain significance | Febrile seizures, familial, 4 | 2014-03-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000155120 | SCV000204806 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ala6091Ala in Exon 86 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (38/6802) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs148171369). |
EGL Genetic Diagnostics, |
RCV000155120 | SCV000232863 | benign | not specified | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000155120 | SCV000612278 | benign | not specified | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086994 | SCV000980354 | likely benign | not provided | 2018-06-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
NEI Ophthalmic Genomics Laboratory, |
RCV000086994 | SCV000119247 | not provided | not provided | no assertion provided | not provided |