Submissions for variant NM_002661.5(PLCG2):c.2236-14C>G

gnomAD frequency: 0.48966  dbSNP: rs12446127

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454836	SCV000540054	benign	not specified	2016-03-28	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: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518288	SCV001726956	benign	Familial cold autoinflammatory syndrome 3	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001540902	SCV001758833	benign	not provided	2021-05-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789356	SCV002031497	benign	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001518288	SCV002031508	benign	Familial cold autoinflammatory syndrome 3	2021-10-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488995	SCV002801839	likely benign	Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	2022-03-11	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454836	SCV004102466	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 90% of patients studied by a panel of primary immunodeficiencies. Number of patients: 86. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001540902	SCV005253067	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000454836	SCV001740004	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000454836	SCV001927000	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000454836	SCV001958327	benign	not specified		no assertion criteria provided	clinical testing