ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)

gnomAD frequency: 0.00076  dbSNP: rs149390911
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533210 SCV000759556 likely benign Blau syndrome; Regional enteritis 2024-01-04 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001784215 SCV001984541 likely benign Inflammatory bowel disease 1 2020-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261147 SCV002542729 likely benign Autoinflammatory syndrome 2019-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884681 SCV004698361 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003953131 SCV004777977 likely benign NOD2-related condition 2022-12-08 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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