ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)

dbSNP: rs1057518796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198243 SCV001369115 likely pathogenic Intellectual disability, autosomal dominant 5 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414895 SCV000492598 likely pathogenic Cerebellar ataxia; Global developmental delay; Absent speech 2016-04-19 no assertion criteria provided clinical testing

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