Category: Policies

You may not upload specific patient identifying information into the system. You may upload (or have uploaded for you) any data relating to the “Aggregate Variant-Level Data Fields” indicated below. Data from other laboratories on the network cannot be used for research or publication without prior permission from the laboratory owning the data (see below

We will allow participating laboratories to initially upload their variant classifications into the system without turning on the sharing mechanism. This means that variant data will not be shared by them or with them until the laboratory has indicated their willingness to share data. We intend to support programmatic access for all variant classifications (without

Alias(es) Allele name Amino Acid change Amino Acid change type DNA change DNA change type Compound type (in cis, in trans) Gene Region Transcript ID Alignment(s) (all validated alignments from source) Genome build name Start and End positions Wild type sequence Variant sequence Nested variant(s) (if parent variant is compound) Same as variant info, but

Will be comprised of representatives from the participating COGR laboratories. Methods for evaluating discrepant variant classifications for each disease areas are currently under discussion. Either working groups or individual laboratories will be involved in resolving discrepant variants interpretations that can be shared with the broader community.

To provide guidance and recommendations leveraging the COGR and other national clinical genomics efforts/initiatives to support and advance genetic-based medicine through better clinical interpretations. To assist in developing overall strategy for the adoption and use of variant knowledge to drive/support high quality, reliability, and efficiency of clinical reporting. Stimulate concept development among thought leaders and

It is possible that governance issues could arise concerning differences of opinion on which laboratories to admit to the network, whether laboratories are adhering to these guidelines or whether there is a need for new guidelines. Should this occur, the COGR PIs will circulate a proposal for resolving the issue. Comments will be solicited and