ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) (rs187134574)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128353 SCV000171947 benign not specified 2013-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128353 SCV000331875 benign not specified 2016-07-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514698 SCV000610962 benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000990807 SCV000639941 benign Epilepsy, X-linked, with variable learning disabilities and behavior disorders 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514698 SCV000844184 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716736 SCV000847579 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000990807 SCV001141849 benign Epilepsy, X-linked, with variable learning disabilities and behavior disorders 2019-05-28 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.