ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.735G>T (p.Gly245=)

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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 RCV004555521 SCV005044496 uncertain significance Immunodeficiency, common variable, 7 2024-02-21 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PM3_SUP,PP3

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