ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)

dbSNP: rs1318205250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561306 SCV001673996 likely benign Blau syndrome; Regional enteritis 2019-09-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261366 SCV002542662 uncertain significance Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing

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