ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp)

dbSNP: rs2151180654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752334 SCV001988434 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29381230)
Institute of Human Genetics, University of Leipzig Medical Center RCV003326155 SCV004032290 uncertain significance Intellectual disability, autosomal dominant 5 2023-08-02 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP,PM2_SUP,PP3

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