ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)

gnomAD frequency: 0.00086  dbSNP: rs104895437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514476 SCV000759545 benign Blau syndrome; Regional enteritis 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262679 SCV002543700 likely benign Autoinflammatory syndrome 2020-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736573 SCV004562158 likely benign not provided 2023-05-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003736573 SCV004699923 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084096 SCV000116226 not provided Blau syndrome no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.