ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)

gnomAD frequency: 0.01319  dbSNP: rs5743278
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001782823 SCV000397262 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000375743 SCV000397263 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV002521039 SCV000636099 benign Blau syndrome; Regional enteritis 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812850 SCV001472197 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261063 SCV002542681 benign Autoinflammatory syndrome 2021-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502245 SCV002811801 likely benign Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 2022-05-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812850 SCV004139322 benign not provided 2022-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BS1, BS2

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