Submissions for variant NM_001006658.3(CR2):c.1776G>A (p.Leu592=)

gnomAD frequency: 0.42495  dbSNP: rs1048971

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454637	SCV000538731	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	RCV001521612	SCV001730982	benign	Immunodeficiency, common variable, 7	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001521612	SCV001876302	benign	Immunodeficiency, common variable, 7	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001683475	SCV001902109	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454637	SCV004233460	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 43% of patients studied by a panel of primary immunodeficiencies. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001683475	SCV005284825	benign	not provided		criteria provided, single submitter	not provided