ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2156-16A>C

gnomAD frequency: 0.00003  dbSNP: rs777216094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433414 SCV001636204 likely benign Immunodeficiency, common variable, 7 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495600 SCV002796763 likely benign Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 7 2021-09-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001433414 SCV004173886 likely benign Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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