ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) (rs150809897)

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 RCV000037338 SCV000060995 likely benign not specified 2011-10-11 criteria provided, single submitter clinical testing Ala551Ala in exon 14 of LAMA4: This variant has been reported in dbSNP without f requency information (rs150809897). It does not change an amino acid and does n ot affect the splice consensus sequence. This makes a disease causing role very unlikely.
GeneDx RCV000037338 SCV000522278 likely benign not specified 2015-12-22 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 RCV000460721 SCV000556723 likely benign Dilated cardiomyopathy 1JJ 2016-10-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000460721 SCV000734447 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided 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.