ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2433-5G>A (rs79745402)

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 RCV000079983 SCV000111874 benign not specified 2013-07-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079983 SCV000308750 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323720 SCV000380235 uncertain significance Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079983 SCV000525334 benign not specified 2016-03-29 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.
Athena Diagnostics Inc RCV000079983 SCV000613779 benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV000541921 SCV000648318 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079983 SCV000151471 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.