ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)

dbSNP: rs2148927438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262099 SCV002542410 likely benign Autoinflammatory syndrome 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101480 SCV002994214 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-09-05 criteria provided, single submitter clinical testing

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