Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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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
Added in this revision:
Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations
in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003
Feb;63(2):447-53. PubMed PMID: 12631110.