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:

COL7A1 R2835H

(COL7A1 Arg2835His)

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 COL7A1 gene
Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Hallopeau
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1