Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
Maple Syrup Urine Disease
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary