ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=)

gnomAD frequency: 0.00004  dbSNP: rs138286163
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819299 SCV002069416 likely benign not specified 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074301 SCV002394516 likely benign Intellectual disability, autosomal dominant 5 2024-11-18 criteria provided, single submitter clinical testing

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