ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)

gnomAD frequency: 0.00021  dbSNP: rs151315883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002547297 SCV001693768 likely benign Blau syndrome; Regional enteritis 2022-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264114 SCV002543027 uncertain significance Autoinflammatory syndrome 2021-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424505 SCV004139315 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NOD2: BP4, BP7

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