ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)

gnomAD frequency: 0.00003  dbSNP: rs139853969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545525 SCV000646438 benign Intellectual disability, autosomal dominant 5 2023-12-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000545525 SCV001368783 uncertain significance Intellectual disability, autosomal dominant 5 2019-05-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
GeneDx RCV001584301 SCV001812611 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing

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