ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)

gnomAD frequency: 0.00127  dbSNP: rs104895444
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001781421 SCV000397272 likely benign Inflammatory bowel disease 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002513880 SCV001100921 likely benign Blau syndrome; Regional enteritis 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954298 SCV001150914 benign not provided 2022-09-01 criteria provided, single submitter clinical testing NOD2: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000954298 SCV001159379 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000084108 SCV001278496 benign Blau syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002260980 SCV002542688 likely benign Autoinflammatory syndrome 2020-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974995 SCV004788671 likely benign NOD2-related disorder 2023-11-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084108 SCV000116239 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.