ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=)

gnomAD frequency: 0.00082  dbSNP: rs149016890
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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 RCV000467845 SCV000562715 benign Intellectual disability, autosomal dominant 5 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313233 SCV000848181 likely benign Inborn genetic diseases 2016-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001653854 SCV001871599 benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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