ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4665+15G>A

gnomAD frequency: 0.00049  dbSNP: rs377415750
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154733 SCV000204413 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 4644+15G>A in intron 33 of LAMA4: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.2% (8/3738) of African American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS; rs377415750). 4644+15G>A in intron 33 of LAMA4 (rs377415750, allele frequ ency = 0.2%, 8/3738) **
GeneDx RCV000154733 SCV000250508 benign not specified 2015-02-12 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 RCV002056058 SCV002360387 benign Dilated cardiomyopathy 1JJ 2023-12-20 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.