Submissions for variant NM_001006658.3(CR2):c.624C>G (p.Pro208=)

dbSNP: rs61759494

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001810990	SCV000603224	benign	not provided	2024-11-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537145	SCV000652492	benign	Immunodeficiency, common variable, 7	2025-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001810990	SCV002562977	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	CR2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002481636	SCV002795314	likely benign	Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 7	2022-04-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000537145	SCV004180407	benign	Immunodeficiency, common variable, 7	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001810990	SCV005284817	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004551643	SCV004754467	benign	CR2-related disorder	2019-03-04	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).