ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4850-9C>T

gnomAD frequency: 0.00001  dbSNP: rs778560020
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002202607 SCV002352359 likely benign Tuberous sclerosis 2 2023-04-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002202607 SCV005407718 benign Tuberous sclerosis 2 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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.