ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2986-6T>A (rs144748036)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124823 SCV000168262 benign not specified 2014-03-22 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124823 SCV000270167 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing c.2986-6T>A in intron 21 of DSP: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (42/10192) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs144748036).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124823 SCV000338588 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000468490 SCV000555789 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-11-28 criteria provided, single submitter clinical testing
Color RCV000777809 SCV000913804 likely benign Cardiomyopathy 2018-05-11 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.