ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.21C>T (p.Ser7=)

gnomAD frequency: 0.00003  dbSNP: rs750532252
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608904 SCV000712054 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing p.Ser7Ser in exon 1 of DSP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8472 of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs750532252).
Color Diagnostics, LLC DBA Color Health RCV001805204 SCV002052180 likely benign Cardiomyopathy 2021-03-16 criteria provided, single submitter clinical testing
Invitae RCV002529312 SCV003447716 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-09-05 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.