Submissions for variant NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)

gnomAD frequency: 0.00051  dbSNP: rs104895452

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001781426	SCV000397301	likely benign	Inflammatory bowel disease 1	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000320195	SCV000397302	likely benign	Blau syndrome	2017-04-28	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	RCV002513885	SCV000759557	likely benign	Blau syndrome; Regional enteritis	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509517	SCV001716268	uncertain significance	not provided	2022-09-30	criteria provided, single submitter	clinical testing	BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002260986	SCV002542710	likely benign	Autoinflammatory syndrome	2021-06-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001509517	SCV004564982	likely benign	not provided	2023-11-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964950	SCV004776643	likely benign	NOD2-related condition	2020-06-12	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	RCV000320195	SCV000116254	not provided	Blau syndrome		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001509517	SCV001740305	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001509517	SCV001976161	likely benign	not provided		no assertion criteria provided	clinical testing