ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) (rs148727077)

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
Ambry Genetics RCV000716325 SCV000847165 benign Seizures 2016-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000713503 SCV000844124 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174285 SCV000225564 likely benign not specified 2014-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000174285 SCV000514752 benign not specified 2017-10-19 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.
Genetic Services Laboratory, University of Chicago RCV000174285 SCV000249019 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331498 SCV000477482 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458439 SCV000562974 benign Early infantile epileptic encephalopathy 2017-12-24 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.