ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=)

gnomAD frequency: 0.00006  dbSNP: rs534933618
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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 RCV001433996 SCV001636794 likely benign Intellectual disability, autosomal dominant 5 2024-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001712900 SCV001942446 benign not provided 2020-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550160 SCV004790148 likely benign SYNGAP1-related disorder 2021-05-24 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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