ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.4509T>C (p.Pro1503=) (rs303815)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715329 SCV000846158 benign History of neurodevelopmental disorder 2015-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713156 SCV000843735 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118283 SCV000152655 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000348150 SCV000379746 benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118283 SCV000312087 benign not specified 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.