ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.381-10dup (rs146315473)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178763 SCV000230917 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000178763 SCV000245330 benign not specified 2018-03-13 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.
PreventionGenetics,PreventionGenetics RCV000178763 SCV000303963 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340409 SCV000373334 likely benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471130 SCV000559667 benign Neuronal ceroid lipofuscinosis 2018-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675465 SCV000801152 benign not provided 2017-08-30 no assertion criteria provided clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000678677 SCV000803211 likely pathogenic Ceroid lipofuscinosis neuronal 2 2018-02-05 no assertion criteria provided clinical testing The observed variant g.7024dupT was neither found in 1000 Genomes nor in ExAC databases. The in-silico prediction of the given variant is disease causing by MutationTaster2.

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.