Submissions for variant NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)

gnomAD frequency: 0.00073  dbSNP: rs104895447

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001781425	SCV000397289	likely benign	Inflammatory bowel disease 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000297099	SCV000397290	likely benign	Blau syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV002513884	SCV000759548	benign	Blau syndrome; Regional enteritis	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002260985	SCV002542703	likely benign	Autoinflammatory syndrome	2022-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701663	SCV004139324	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	NOD2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003945034	SCV004759108	likely benign	NOD2-related disorder	2020-06-11	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	RCV000297099	SCV000116246	not provided	Blau syndrome		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701663	SCV001929457	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701663	SCV001969242	likely benign	not provided		no assertion criteria provided	clinical testing