ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)

gnomAD frequency: 0.00001  dbSNP: rs753744335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261985 SCV002542741 likely benign Autoinflammatory syndrome 2022-03-16 criteria provided, single submitter clinical testing
Invitae RCV003774808 SCV004583560 likely benign Blau syndrome; Regional enteritis 2023-11-19 criteria provided, single submitter clinical testing

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