These modules provide an online competency assessment for the classification of germline Single Nucleotide Variants (SNV) and Copy Number Variants (CNV).

 

Who can participate? 

Individuals who classify the pathogenicity of germline SNVs and/or CNVs.  

 

What is involved?

Participants can participate in the SNV and/or the CNV modules.  For each assessment, participants receive 6 variants to classify.  Participants can choose to classify some or all of the variants.   For each variant classification submitted, participants should also provide the criteria evidence for their classification.

 

Information for participants: 

• Once registered, participants have instant access to both the SNV and CNV modules. 
• The variants are randomly generated so participants can repeat the assessment multiple times.  
• Both modules include prenatal and postnatal variants with associated referral information. 
• Results are instantly automatically assessed once results are submitted.  
• The predicted classifications have been agreed by an international panel of experts. 
• The predicted classifications are based on ACMG CNV Classification guidelines (Riggs et al., 2020) or ACMG SNV Classification guidelines (Richards et al., 2015), including any differences in classification arising from the use of ACGS 2020 and CanVIG-UK guidelines for Cancer Susceptibility Genes guidelines. 

 

On completion of each assessment: 

All participants will receive:

• Individual report which summarises their classification, including the expected classification and criteria
• Certificate of participation

 

How do I enrol? 

• Individual genomics professionals can invest in their own GENie training (access to all GENie modules, HGVS Nomenclature, ISCN, CNV/SNV Classification, Risk Calculations, Tumour Variant Classification, WGS/WES proportionate variant analysis) for just £35 for 12 months. Purchase using PayPal. o Register for an individual accout click here
• Laboratories or clinical centres can purchase multilicences for GENie for 10 users, costed at £330, per calendar year. This product includes access to all GENie modules. The end date of the tokens expire at midnight on 1st January, of each year. Log in to your GenQA account and go to the ‘purchase’ interface for the GENie multilicence for laboratories and clinical centres product.

Both the SNV and CNV modules can be accessed with a single user licence.