ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=)

dbSNP: rs1561794001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691375 SCV000819151 likely benign Intellectual disability, autosomal dominant 5 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001584564 SCV001818635 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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