ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2220+11C>T

gnomAD frequency: 0.00003  dbSNP: rs372555496
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189904 SCV000243562 benign not specified 2014-06-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Preventiongenetics, part of Exact Sciences RCV000189904 SCV000305167 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797670 SCV002041444 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001797670 SCV002469794 likely benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390917 SCV004133832 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TSC2: BS1

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.