ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.937-3C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371740 SCV002688710 uncertain significance Cardiovascular phenotype 2021-03-30 criteria provided, single submitter clinical testing The c.937-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 6 in the LMNA gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003533213 SCV004359108 likely benign Cardiomyopathy 2022-10-06 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.