Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193710 | SCV000248267 | likely benign | not specified | 2015-05-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000193710 | SCV000316261 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000193710 | SCV000527284 | likely benign | not specified | 2016-05-06 | 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. |
Invitae | RCV000535033 | SCV000636155 | benign | Nephronophthisis | 2017-11-07 | criteria provided, single submitter | clinical testing |