ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=)

gnomAD frequency: 0.00001  dbSNP: rs894226138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110957 SCV002380950 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2025-01-13 criteria provided, single submitter clinical testing

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