ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1488+8G>A (rs762836610)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220172 SCV000270359 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing c.1488+8G>A in intron 8 of LMNA: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.1% (22/16602) South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725758 SCV000339206 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000220172 SCV000525280 likely benign not specified 2016-03-03 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 RCV000654014 SCV000775904 benign Charcot-Marie-Tooth disease, type 2 2017-11-27 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.