ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) (rs72648245)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040786 SCV000064477 benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Asn28078Ser in exon 287 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (153/24006) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs72648245). BA1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040786 SCV000228678 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000040786 SCV000237760 likely benign not specified 2018-02-01 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 RCV001082069 SCV000286912 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249101 SCV000318787 likely benign Cardiovascular phenotype 2013-07-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714118 SCV000844793 likely benign not provided 2017-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768864 SCV000900237 benign Cardiomyopathy 2016-08-30 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.