ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)

gnomAD frequency: 0.00010  dbSNP: rs111608429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264573 SCV000397232 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303331 SCV000397233 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002522860 SCV001064457 likely benign Blau syndrome; Regional enteritis 2023-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002465 SCV001160408 likely benign not specified 2019-04-09 criteria provided, single submitter clinical testing

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