If you have questions about the VCI/GCI or experience technical difficulties, please email the helpdesk at [email protected]envelope.
For training, SOP and additional resources, visit Variant Pathogenicity Training Materialsarrow-up-right.
If you have questions about variant curation, contact the Variant Curation Working Group at [email protected]envelope.
For training, SOP and additional resources, visit Gene-Disease Clinical Validity Training Materialsarrow-up-right.
If you have questions about gene-disease curation, contact the Gene Curation Working Group at [email protected]envelope.
Gene Trackerarrow-up-right
[email protected]envelope
Evidence Repository (ERepo)arrow-up-right
Criteria Specification Registry (CSpec)arrow-up-right
Allele Registryarrow-up-right
Linked Data Hub (LDH)arrow-up-right
Pathogenicity Calculatorarrow-up-right
Actionability Curation Interface (ACI)arrow-up-right
CNV Interpretation Calculatorarrow-up-right
For all other questions, contact [email protected]envelope
Last updated 1 year ago