The Copy Number Variant Interpretation Guidelines WG is developing a systematic framework for the clinical interpretation of cytogenomic copy number variants.
Chairs
Coordinators
Please contact a coordinator if you have questions.
Documents
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ClinVar Submission Template, CNV fields highlighted (October 2016) (xlsx)Data Sharing Resources - March 12, 2016 - Be sure to download the latest ClinVar submission template from the ClinVar FTP site. An example spreadsheet (current October 2016) is provided below; fields that are relevant for copy number variant submissions are highlighted in gree (required) and light green (optional). Upload your file to the ClinVar Submission Portal. If you have any questions or problems, contact ClinVar at clinvar@ncbi.nlm.nih.gov.
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Erin Riggs, MS, CGC
Erik Thorland PhD, FACMG
Elizabeth Gavrilov BA
Anne Higgins PhD
Christa Martin PhD, FACMG
Andrea Vaags PhD, FCCMG