ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) (rs139624657)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200304 SCV000252891 benign Charcot-Marie-Tooth disease type 4 2019-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000344573 SCV000333751 benign not specified 2015-08-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576819 SCV000677435 benign Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000990214 SCV001141084 benign Spinocerebellar ataxia 46 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000857043 SCV001337084 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857043 SCV000999613 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857044 SCV000999614 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857045 SCV000999615 uncertain significance Charcot-Marie-Tooth disease type 5 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000200304 SCV000999616 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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.