ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) (rs1555937168)

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
Ambry Genetics RCV000624800 SCV000742559 pathogenic Inborn genetic diseases 2017-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Mendelics RCV000990864 SCV001141914 pathogenic X-linked hereditary motor and sensory neuropathy 2019-05-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789280 SCV000928633 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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.