Submissions for variant NM_144687.4(NLRP12):c.969T>G (p.Leu323=)

gnomAD frequency: 0.00814  dbSNP: rs142063194

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254152	SCV000316037	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328717	SCV000414551	likely benign	Familial cold autoinflammatory syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001000433	SCV000646340	benign	Familial cold autoinflammatory syndrome 2	2025-02-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000433	SCV001157247	benign	Familial cold autoinflammatory syndrome 2	2023-10-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002058405	SCV002498507	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	NLRP12: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262908	SCV002542579	benign	Autoinflammatory syndrome	2022-01-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002058405	SCV005205960	likely benign	not provided		criteria provided, single submitter	not provided