Submissions for variant NM_001370466.1(NOD2):c.-8-7T>A

gnomAD frequency: 0.00092  dbSNP: rs104895421

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202800	SCV000258187	uncertain significance	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302918	SCV000397170	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.
Illumina Laboratory Services, Illumina	RCV001781432	SCV000397171	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). 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.
Invitae	RCV002514489	SCV000759551	benign	Blau syndrome; Regional enteritis	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811398	SCV001473677	likely benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262681	SCV002542331	benign	Autoinflammatory syndrome	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811398	SCV004139308	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOD2: BS1, BS2
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000302918	SCV000116268	not provided	Blau syndrome		no assertion provided	not provided