Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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This variant is associated with Hyperoxaluria, Primary, Type 1
See unpublished research (below).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