ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.297+8G>A

gnomAD frequency: 0.00075  dbSNP: rs200595773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000037359 SCV000061016 benign not specified 2012-07-17 criteria provided, single submitter clinical testing 297+8G>A in Intron 03 of LAMA4: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS;). 297+8G>A in Intron 03 of LAMA4 (allele frequency = 0.3%, 10/3738) **
GeneDx RCV000037359 SCV000517878 likely benign not specified 2017-09-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467534 SCV000556724 benign Dilated cardiomyopathy 1JJ 2025-01-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037359 SCV001921360 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725945 SCV001968087 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003934907 SCV004764005 likely benign LAMA4-related disorder 2019-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.