ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn)

gnomAD frequency: 0.00014  dbSNP: rs61755272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540802 SCV001054811 likely benign Blau syndrome; Regional enteritis 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532322 SCV001747832 benign not provided 2023-02-01 criteria provided, single submitter clinical testing NOD2: BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261237 SCV002542697 likely benign Autoinflammatory syndrome 2022-03-17 criteria provided, single submitter clinical testing

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