ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu)

gnomAD frequency: 0.00146  dbSNP: rs34577313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974731 SCV001122581 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264123 SCV002543567 likely benign Autoinflammatory syndrome 2021-03-26 criteria provided, single submitter clinical testing

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