ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) (rs147695488)

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
Ambry Genetics RCV000249046 SCV000319892 uncertain significance Cardiovascular phenotype 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000037390 SCV000518344 likely benign not specified 2018-02-05 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 RCV000475120 SCV000556722 likely benign Dilated cardiomyopathy 1JJ 2017-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037390 SCV000061047 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Gly172Ser in exon 6 of LAMA4: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (25/9762) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs147695488).

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.