ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)

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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 RCV003795065 SCV004590118 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2023-01-20 criteria provided, single submitter clinical testing

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