Submissions for variant NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)

gnomAD frequency: 0.00726  dbSNP: rs34684955

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002528347	SCV000636104	benign	Blau syndrome; Regional enteritis	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001907	SCV001159659	benign	not specified	2019-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001783045	SCV001278060	benign	Inflammatory bowel disease 1	2017-10-18	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001119634	SCV001278061	benign	Blau syndrome	2017-10-18	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261101	SCV002542731	likely benign	Autoinflammatory syndrome	2022-04-04	criteria provided, single submitter	clinical testing