Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on January 5, 2010 at 3:01pm by Abraham Rosenbaum.
Edited in this revision:
This variant is causative for Benign Familial Hematuria (thin membrane basement disease). While this variant is benign, it is useful in differentiating glomerular hematuria from Alport Syndrome.
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