ClinVar Miner

Submissions for variant NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) (rs142558269)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514631 SCV000610191 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000385948 SCV000745451 likely benign Netherton syndrome 2017-11-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000385948 SCV000734386 likely benign Netherton syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000385948 SCV000743991 benign Netherton syndrome 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385948 SCV000453745 uncertain significance Netherton syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000385948 SCV000631310 benign Netherton syndrome 2018-01-05 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.