Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000352883 | SCV000445008 | benign | Aicardi Goutieres syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000406520 | SCV000445009 | benign | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840618 | SCV000982546 | benign | not provided | 2018-04-24 | 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. |
Breakthrough Genomics, |
RCV000840618 | SCV005306200 | benign | not provided | criteria provided, single submitter | not provided |