ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2844G>A (p.Glu948=)

gnomAD frequency: 0.00098  dbSNP: rs61754518
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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 RCV000508175 SCV000603225 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085133 SCV000772153 benign Immunodeficiency, common variable, 7 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000508175 SCV004125502 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CR2: BP4, BP7
Genome-Nilou Lab RCV001085133 SCV004180449 benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000508175 SCV005261184 likely benign not provided criteria provided, single submitter not provided

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