Monthly MDM

The monthly teleconferenced MDM provides a forum to which problematic variants/cases are submitted and discussed with CanVIG-UK the membership. 

 

Each meeting will focus on a particular subset of variants and the relevant clinical and laboratory data are presented by the nominating laboratory. This is followed by input of any additional information by the broader membership and a discussion regarding the legitimacy of the ACMG criteria awarded.

 

Following this discussion a consensus CanVIG-UK classification is generated, uploaded to CanVAR and submitted to ClinVar.

Next Meeting

10 July 2020

Variant/s for discussion

  • SDH c.32G>A (Arg11His)

  • SDH c.744C>G (Asn248Lys)

  • SDH c.1432_1432+1del

The process for submitting variants for discussion

  1. Members submit a variant for discussion by emailing CanVIG@icr.ac.uk.

  2. The variants for each month are decided at the prior meeting (1 month earlier).

  3. The nominating person and/or lab will provide information on the variant/case.

  4. The information is circulated 1 week in advance to the wider membership who are asked: 

    • To ascertain whether additional cases and/or laboratory data exist locally.

    • To undertake local, independent classification of the variant.  

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This work was supported by Cancer Research UK [C61296/A27223]