ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer)

dbSNP: rs1760904978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253508 SCV001429247 likely pathogenic Intellectual disability, autosomal dominant 5 2019-11-27 criteria provided, single submitter clinical testing

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