ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.767+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Biochemistry, Faculty of Medicine, University of Khartoum RCV002284294 SCV002573696 pathogenic Marinesco-Sjögren syndrome criteria provided, single submitter research

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