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!
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
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het - @ chr9:135771988
PGP89 is a healthy 58 year old male with no signs of tuberous sclerosis; dominant alleles of TSC1 are described in the OMIM entry (605284).