ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)

gnomAD frequency: 0.00005  dbSNP: rs753575634
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513313 SCV000609203 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SYNGAP1: PP2, BP4, BS2
Ambry Genetics RCV002311827 SCV000846336 likely benign Inborn genetic diseases 2021-08-16 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.
Fulgent Genetics, Fulgent Genetics RCV000764648 SCV000895757 uncertain significance Intellectual disability, autosomal dominant 5 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000764648 SCV000940717 benign Intellectual disability, autosomal dominant 5 2024-12-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.