ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)

dbSNP: rs1485749468
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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 RCV000503272 SCV000598118 likely pathogenic Intellectual disability, autosomal dominant 5 2017-01-12 criteria provided, single submitter clinical testing

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