ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs)

dbSNP: rs2151190684
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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 RCV001706830 SCV001934349 pathogenic Intellectual disability, autosomal dominant 5 2021-07-28 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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