ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)

dbSNP: rs4422842
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988319 SCV001137988 benign Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001712843 SCV001945466 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712843 SCV005320363 benign not provided criteria provided, single submitter not provided

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.