ClinVar Miner

Submissions for variant NM_017449.5(EPHB2):c.2384C>A (p.Pro795Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813408 SCV005438287 uncertain significance Bleeding disorder, platelet-type, 22 2024-12-18 criteria provided, single submitter clinical testing

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