ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.729C>G (p.Leu243=) (rs45473698)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180175 SCV000169170 benign not specified 2013-02-20 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.
Ambry Genetics RCV000163296 SCV000213824 likely benign Hereditary cancer-predisposing syndrome 2014-10-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180175 SCV000232567 likely benign not specified 2014-06-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000180175 SCV000249209 likely benign not specified 2015-04-06 criteria provided, single submitter clinical testing
Invitae RCV000857997 SCV000262186 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000180175 SCV000270960 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu243Leu in exon 8 of TSC2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.3% (23/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs45473698).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000204102 SCV000296952 benign Tuberous sclerosis 2 2015-09-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180175 SCV000305256 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042642 SCV000395565 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042642 SCV000066437 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.