ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2240+19A>G

gnomAD frequency: 0.00357  dbSNP: rs140933861
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517872 SCV001726468 benign Immunodeficiency, common variable, 7 2024-01-28 criteria provided, single submitter clinical testing

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