Submissions for variant NM_001370466.1(NOD2):c.2325G>T (p.Val775=)

gnomAD frequency: 0.00157  dbSNP: rs104895495

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000313611	SCV000397273	benign	Blau syndrome	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV001781422	SCV000397274	likely benign	Inflammatory bowel disease 1	2018-01-12	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	RCV002513881	SCV001118335	benign	Blau syndrome; Regional enteritis	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727568	SCV001477577	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002260981	SCV002542691	likely benign	Autoinflammatory syndrome	2021-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727568	SCV002545788	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	NOD2: BP4, BP7, BS2
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000313611	SCV000116240	not provided	Blau syndrome		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701592	SCV001931940	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727568	SCV001969413	likely benign	not provided		no assertion criteria provided	clinical testing