ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.486G>A (p.Thr162=)

gnomAD frequency: 0.00051  dbSNP: rs144887729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002548345 SCV001118135 benign Blau syndrome; Regional enteritis 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970549 SCV001150908 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264116 SCV002542298 likely benign Autoinflammatory syndrome 2022-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928488 SCV004737905 likely benign NOD2-related disorder 2020-09-17 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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