ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.873A>C (p.Ala291=)

dbSNP: rs199951979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002554064 SCV001618898 likely benign Blau syndrome; Regional enteritis 2022-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261359 SCV002542757 uncertain significance Autoinflammatory syndrome 2019-10-01 criteria provided, single submitter clinical testing

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