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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PolyPhen-2 reports DBH-G482R to be POSSIBLY DAMAGING with a score of 0.938 (sensitivity: 0.80; specificity: 0.94).
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr9:136521654