Hi, we got our sons results back yesterday and he has homozygous c.743+2T>C - it's not on the database and so I'm wondering if anyone here has the same variant, or if you can guide me where to look for more information.
Hi! I've been reading your posts for a while but this is my first post. I think I'm looking for reassurance.
Two of my three children (2 and 10) had positive sweat tests and we are now waiting for blood results.
My 10 year old had polyps and was referred for a sweat test. I got his brothers...