ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)

gnomAD frequency: 0.00019  dbSNP: rs758432190
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001482908 SCV001687287 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2023-12-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264125 SCV002542377 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883519 SCV004700958 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NLRC4: BP4, BP7

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