ClinVar Miner

Submissions for variant GRCh37/hg19 17p12(chr17:15229779-15265326)x3

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Invitae Patient Insights Network RCV001535497 SCV001749448 not provided Charcot-Marie-Tooth disease, type IA no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 09-24-2020 by Invitae. Duplication detected via a next-generation sequencing panel. Minimum coordinates are provided. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.