ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465440 SCV002760124 pathogenic Intellectual disability, X-linked 1 2022-11-29 criteria provided, single submitter research

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