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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Curation:

Currentness:

FANCA S700L

(FANCA Ser700Leu)

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

GeneTests

GeneTests records for the FANCA gene
Fanconi Anemia
FANCA-Related Fanconi Anemia
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCA

Web search results (0 hits -- see all)