Does gnomAD have access to the clinical status of individuals included in their data?

Methods
1

Hello,

my name is Matija Kocbek and I am a 22 year old student of Mathematics from Slovenia. I have had unexplained neurological problems for a year and a half now. I have had whole genome sequencing which showed two variations of uncertain significance - one in the ATL3 gene and one in the SYNE2 gene. Both mutations are found in gnomAD’s population. I would like to know whether gnomAD has access to the clinical status of individuals included in their data and whether it is possible for gnomAD to anonymously share this type of information so I could see whether my clinical status correlates with that of others with the same mutations.

Looking forward to hearing from you.

Best wishes from Slovenia.

Matija Kocbek

2

Hello @Matija_Kocbek ,

Unfortunately we do not we have comprehensive phenotype metadata for gnomAD samples and the information we do have is not consented to be shared. If you have not yet visited the sites, I believe ClinVar and ClinGen may be able to provide you more information about the variants than we can.

Best,
Mike