ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4662+17G>A

gnomAD frequency: 0.00019  dbSNP: rs45443002
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
PreventionGenetics, part of Exact Sciences RCV000252120 SCV000305229 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252120 SCV000518883 likely benign not specified 2017-04-06 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.
Genome-Nilou Lab RCV001797603 SCV002039505 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001797603 SCV002436516 likely benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490593 SCV002798517 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042742 SCV000066537 not provided Tuberous sclerosis syndrome no assertion provided curation

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.