ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1248G>A (p.Val416=)

gnomAD frequency: 0.00074  dbSNP: rs377140938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652421 SCV000774291 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311916 SCV001502282 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263920 SCV002542366 likely benign Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing

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