ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1372C>T (p.Leu458=)

gnomAD frequency: 0.01031  dbSNP: rs5743274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527762 SCV000636094 benign Blau syndrome; Regional enteritis 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811043 SCV001157781 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263766 SCV002543034 benign Autoinflammatory syndrome 2022-03-04 criteria provided, single submitter clinical testing

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