ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)

gnomAD frequency: 0.00056  dbSNP: rs147980356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652414 SCV000774284 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263916 SCV002542403 likely benign Autoinflammatory syndrome 2021-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510948 SCV002822627 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NLRC4: BP4, BP7

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