ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) (rs111475461)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128202 SCV000171794 benign not specified 2014-04-08 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.
Invitae RCV000585517 SCV000259517 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000128202 SCV000309380 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315327 SCV000399752 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585517 SCV000692882 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128202 SCV000709275 benign not specified 2017-06-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000585517 SCV000844094 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Mendelics RCV000989665 SCV001140197 benign Spastic paraplegia 7 2019-05-28 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.