ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) (rs118203532)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568490 SCV000664629 likely benign Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other strong data supporting benign classification,Subpopulation frequency in support of benign classification
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034602 SCV000043515 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761004 SCV000890919 uncertain significance Primitive neuroectodermal tumor 2016-03-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000189811 SCV000342691 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000189811 SCV000243461 likely benign not specified 2018-01-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000054845 SCV000478231 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319085 SCV000478232 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230059 SCV000284676 benign Tuberous sclerosis 1 2017-12-24 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054845 SCV000065815 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.