Submissions for variant NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)

gnomAD frequency: 0.00120  dbSNP: rs34716166

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454626	SCV000539902	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent variant not near splice site
Invitae	RCV000531949	SCV000655417	benign	Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263692	SCV002543556	benign	Autoinflammatory syndrome	2021-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727728	SCV004011139	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NLRC4: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000454626	SCV001927458	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727728	SCV001972426	likely benign	not provided		no assertion criteria provided	clinical testing