ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.700A>G (p.Ile234Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004821097 SCV005442023 uncertain significance Glanzmann thrombasthenia 1 2024-12-19 criteria provided, single submitter clinical testing

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