ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.15G>T (p.Ala5=) (rs4533)

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 RCV000116838 SCV000168053 benign not specified 2012-10-08 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 RCV000116838 SCV000224146 benign not specified 2016-05-18 criteria provided, single submitter clinical testing
Invitae RCV000232779 SCV000283509 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116838 SCV000302280 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402934 SCV000436267 likely benign Unverricht-Lundborg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715177 SCV000846005 likely benign Seizures 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Genetic Services Laboratory, University of Chicago RCV000116838 SCV000150912 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.

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.