[185005181]
I received dequenching as part of a deal through the personal genome project (with data uploaded on (b)(6) 2016). So, this is specifically for the pgp get-evidence report, which may not be what other customer receive. I think the link will be removed from maude. However, in terms of providing info to the fda, there is add'l info available here: (b)(6). Similarly, i think the link will be removed, but you can view my pgp profile here: (b)(6). If the fda would like more info, then i would be glad to provide it. However, this is my concern: i am a cystic fibrosis carrier (as defined by clinvar, the ctfr2 database, etc), but this was not mentioned on the first page of the get-evidence report (which only listed variants for mbl2-g54d, col4a1-q1334h, spg7-a510v, and mtrr-i49m). I think one factor may be how this deletion is listed, since i could find the variant as "cftr-l88shift" after learning to look that alternative name under the category of "insufficiently evaluated variants". I would also like to thank a contributor to a biostars discussion for pointing out how i could find this variant annotation (more specifically cited in the blog post). Also, to be fair, i don't think this product was specifically marketed to be able to tell you your cystic fibrosis status (just for general research purposes). However, i think most people would consider this a false negative. Veritas genetics. Fda safety report id# (b)(4).
Patient Sequence No: 1, Text Type: D, B5