ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)

gnomAD frequency: 0.00086  dbSNP: rs104895437
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514476 SCV000759545 benign Blau syndrome; Regional enteritis 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262679 SCV002543700 likely benign Autoinflammatory syndrome 2020-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736573 SCV004562158 likely benign not provided 2023-05-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003736573 SCV004699923 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003736573 SCV005289778 benign not provided criteria provided, single submitter not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084096 SCV000116226 not provided Blau syndrome no assertion provided not provided

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