ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val)

gnomAD frequency: 0.07668  dbSNP: rs17618
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001655661 SCV001156967 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513468 SCV001721086 benign Immunodeficiency, common variable, 7 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001655661 SCV001868354 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513468 SCV004180455 benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655661 SCV005284836 benign not provided criteria provided, single submitter not provided

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