ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.395G>A (p.Cys132Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV005230886 SCV005871656 uncertain significance Immunodeficiency, common variable, 7 2025-02-11 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,PM2_SUP

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