ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)

gnomAD frequency: 0.00195  dbSNP: rs148632046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652418 SCV000774288 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263919 SCV002542381 likely benign Autoinflammatory syndrome 2021-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424249 SCV004144070 benign not provided 2023-03-01 criteria provided, single submitter clinical testing NLRC4: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003945671 SCV004765190 benign NLRC4-related disorder 2019-11-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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