ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2381+7G>T

gnomAD frequency: 0.00017  dbSNP: rs202111813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002568021 SCV001720236 benign Blau syndrome; Regional enteritis 2024-01-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261369 SCV002542694 uncertain significance Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing

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