Submissions for variant NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile)

gnomAD frequency: 0.00033  dbSNP: rs61754517

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087935	SCV001119528	likely benign	Immunodeficiency, common variable, 7	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000971854	SCV001150600	likely benign	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001087935	SCV004180448	likely benign	Immunodeficiency, common variable, 7	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000971854	SCV005261182	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000971854	SCV005877075	likely benign	not provided	2024-07-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553491	SCV004719166	likely benign	CR2-related disorder	2020-03-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).