ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.12C>T (p.Asn4=)

dbSNP: rs368802003
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 RCV001718823 SCV000512871 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620540 SCV000738092 likely benign Cardiovascular phenotype 2017-07-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866139 SCV001007199 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191145 SCV001358849 likely benign Cardiomyopathy 2019-06-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995952 SCV004832756 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-14 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.