ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4854C>T (p.Val1618=)

gnomAD frequency: 0.00003  dbSNP: rs45517378
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
Ambry Genetics RCV000167027 SCV000217850 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000644352 SCV000766045 likely benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000842404 SCV000984424 likely benign not provided 2019-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644352 SCV002039865 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043194 SCV000066995 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.