ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.1238A>T (p.Glu413Val)

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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 RCV004764700 SCV005374323 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2A 2024-09-22 criteria provided, single submitter clinical testing

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