ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1737+4C>T

gnomAD frequency: 0.00421  dbSNP: rs5997814
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
Invitae RCV000554167 SCV000655808 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001584346 SCV001813896 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554167 SCV002555009 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270665 SCV002555120 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001584346 SCV004154875 benign not provided 2023-09-01 criteria provided, single submitter clinical testing MORC2: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001584346 SCV004565199 likely benign not provided 2023-11-22 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.