ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1599+9C>T

gnomAD frequency: 0.00005  dbSNP: rs776274603
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535226 SCV000644262 benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497147 SCV002808508 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935465 SCV004750671 likely benign TSC2-related condition 2023-12-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.