ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro)

dbSNP: rs1760918521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252124 SCV001427873 likely pathogenic Intellectual disability, autosomal dominant 5 2019-01-01 no assertion criteria provided clinical testing

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