ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr)

dbSNP: rs1060499660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449548 SCV000537719 pathogenic Intellectual disability, X-linked 1 2014-11-10 criteria provided, single submitter clinical testing

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