ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2649T>C (p.Gly883=)

gnomAD frequency: 0.02114  dbSNP: rs1143665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103797 SCV000603223 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545920 SCV000652487 benign Immunodeficiency, common variable, 7 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545920 SCV004180446 benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003103797 SCV005284834 benign not provided criteria provided, single submitter not provided

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