ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)

dbSNP: rs1761049027
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Total submissions: 2
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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 RCV001253736 SCV001429592 likely pathogenic Intellectual disability, autosomal dominant 5 2019-02-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255374 SCV001431704 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.2250dup, p.(Pro751Alafs*4) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was not maternal.The variant likely explains the NDD in this individual.

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