ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1923G>A (p.Pro641=)

gnomAD frequency: 0.00019  dbSNP: rs199475914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430503 SCV001633245 likely benign Blau syndrome; Inflammatory bowel disease 1 2020-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000089378 SCV001961595 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262701 SCV002543723 likely benign Autoinflammatory syndrome 2019-11-01 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000089378 SCV000121836 untested not provided no assertion provided not provided Converted during submission to not provided.

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