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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(FANCA Val6Asp)
Short summary
PolyPhen-2 predicts FANCA-V6D to be BENIGN with a score of 0.072 (sensitivity: 0.94; specificity: 0.84).
Impact
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261 het T @ chr16:89883007
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 het T @ chr16:89883007
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 het T @ chr16:89883007
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 het T @ chr16:89883007
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 het T @ chr16:89883007