ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.735C>T (p.Ser245=)

gnomAD frequency: 0.00360  dbSNP: rs35090774
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527764 SCV000636107 benign Blau syndrome; Regional enteritis 2024-01-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811045 SCV002047934 benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261102 SCV002542750 benign Autoinflammatory syndrome 2022-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811045 SCV004139311 benign not provided 2022-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7, BS1, BS2

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