ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.3189-8_3189-7del

dbSNP: rs112859639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556178 SCV000652488 benign Immunodeficiency, common variable, 7 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811064 SCV001471952 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000556178 SCV004173888 likely benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553243 SCV004779158 benign CR2-related disorder 2019-09-17 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).

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