ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.633G>T (p.Pro211=)

dbSNP: rs35131566
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089194 SCV000288778 benign Spinocerebellar ataxia type 19/22 2023-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000712067 SCV000727024 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712067 SCV000842481 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365198 SCV002660674 likely benign Cardiovascular phenotype 2018-04-02 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.

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.