ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1122C>T (p.Asn374=)

gnomAD frequency: 0.00008  dbSNP: rs199475954
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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 RCV001079581 SCV001055609 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000089332 SCV000121789 untested not provided no assertion provided not provided Converted during submission to not provided.

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