|Coagulation Factor Deficiency Expert Panel (In progress)||Status - Step 1|
|Hemostasis/Thrombosis Gene Curation Expert Panel (In progress)||Status - Step 1|
|Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel (In progress)||Status - Step 2|
|Platelet Disorders Expert Panel (In progress)||Status - Step 2|
|Jonathan Berg, MD, PhD||Executive Leadership|
|Nigel Key, MBChB, FRCP||Executive Committee|
|Kristy Lee, MS, CGC||Coordinator|
|Leighton Telling, BS||Coordinator|
|Keith Gomez MBBS PhD MRCP FRCPath||Member|
|Andrew D Mumford BSc MB ChB PhD FRCPath||Member|
|Michele P. Lambert, MD, MSTR||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.