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:

SGSH G251A

(SGSH Gly251Ala)

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 SGSH gene
Mucopolysaccharidosis Type IIIA
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGSH

Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Nov 29 2012 Genome Importing Robot added variant view