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.
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This variant is associated with Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
See unpublished research (below).
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
Used Counsyl Diagnostic Screen http://precedings.nature.com/documents/4192/version/1