Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000147734 | SCV000306466 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000334707 | SCV000376271 | likely benign | Joubert syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000513867 | SCV000610327 | likely benign | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000147734 | SCV000728831 | benign | not specified | 2017-06-05 | 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. |
Genetic Services Laboratory, |
RCV000147734 | SCV000195200 | likely benign | not specified | no assertion criteria provided | clinical testing |