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.
Please help improve GET-Evidence by evaluating evidence for this variant!
While this specific variant has not been studied and in fact seems not to appear in any available data, numerous other variants in COL5A1 are associated with Ehlers-Danlos syndrome phenotypes, some of which are thought to be causative.
NBLOSUM=4; other variants in this gene are known to cause disease
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