ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=)

dbSNP: rs535906467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645761 SCV000767516 likely benign Intellectual disability, autosomal dominant 5 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001675950 SCV001892357 benign not provided 2020-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547818 SCV004776300 likely benign SYNGAP1-related disorder 2019-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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