ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.310+6del (rs780828430)

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
GeneDx RCV000235258 SCV000292557 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000314404 SCV000474960 uncertain significance Charcot-Marie-Tooth with Vocal Cord Paresis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369024 SCV000474961 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487806 SCV000575561 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001079588 SCV000644064 likely benign Charcot-Marie-Tooth disease, type 4A 2019-12-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173553 SCV001336643 benign Charcot-Marie-Tooth disease 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.