ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) (rs35772073)

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,Partners HealthCare Personalized Medicine RCV000150902 SCV000198495 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Leu878Leu in exon 20 of LAMA4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 55/66732 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs35772073).
GeneDx RCV000150902 SCV000250503 benign not specified 2015-02-06 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.
Ambry Genetics RCV000253511 SCV000320394 likely benign Cardiovascular phenotype 2015-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000466404 SCV000556712 likely benign Dilated cardiomyopathy 1JJ 2017-09-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000466404 SCV000744216 likely benign Dilated cardiomyopathy 1JJ 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000466404 SCV000734438 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.