ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.840G>C (p.Leu280=) (rs140349036)

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
Ambry Genetics RCV000716298 SCV000847138 likely benign Seizures 2016-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118657 SCV000110549 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000118657 SCV000169044 benign not specified 2013-01-21 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.
Genetic Services Laboratory, University of Chicago RCV000118657 SCV000153071 uncertain significance not specified 2014-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343988 SCV000373331 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473376 SCV000559673 benign Neuronal ceroid lipofuscinosis 2018-01-12 criteria provided, single submitter clinical testing

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.