Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000303039 | SCV000399291 | benign | Brittle cornea syndrome 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000433240 | SCV000524302 | benign | not specified | 2016-09-29 | 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. |
Diagnostic Laboratory, |
RCV000303039 | SCV000733528 | benign | Brittle cornea syndrome 1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000303039 | SCV000745866 | benign | Brittle cornea syndrome 1 | 2016-01-15 | no assertion criteria provided | clinical testing |