ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.-8-2185C>T

gnomAD frequency: 0.00024  dbSNP: rs144993105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658745 SCV000780534 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001454662 SCV001658398 likely benign Blau syndrome; Inflammatory bowel disease 1 2021-10-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658745 SCV002048216 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261163 SCV002542740 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945688 SCV004772975 likely benign NOD2-related disorder 2022-08-28 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).

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