ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.330C>T (p.Asn110=) (rs139116481)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206100 SCV000259512 likely benign Charcot-Marie-Tooth disease, type 1C 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001711611 SCV000513487 benign not provided 2020-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15776429, 19396477)
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174238 SCV001337367 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000429066 SCV000929649 uncertain significance not specified 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.