ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.227-5T>C

gnomAD frequency: 0.00001  dbSNP: rs763643471
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071351 SCV001236648 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2023-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283962 SCV003987674 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.227-5T>C intronic alteration consists of a T to C substitution 5 nucleotides after coding exon 4 in the MORC2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.