ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)

gnomAD frequency: 0.00006  dbSNP: rs150401343
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415916 SCV000493333 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KCND3: PP2, BS1
Genetic Services Laboratory, University of Chicago RCV000172842 SCV000595296 likely pathogenic Brugada syndrome 9 2016-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552635 SCV000640057 likely benign Spinocerebellar ataxia type 19/22 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618307 SCV000738231 likely benign Cardiovascular phenotype 2023-09-18 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000172842 SCV000746546 likely pathogenic Brugada syndrome 9 2017-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000415916 SCV002005211 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31130284, 26582918, 22284586, 30609406, 22840528, 21349352, 26016905, 29247119, 28444220, 30662450, 23963749, 30821013)
New York Genome Center RCV000552635 SCV002099062 uncertain significance Spinocerebellar ataxia type 19/22 2021-04-10 criteria provided, single submitter clinical testing
Mendelics RCV002247580 SCV002517229 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000172842 SCV000223808 pathogenic Brugada syndrome 9 2011-07-01 no assertion criteria provided literature only
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV000415916 SCV004175012 uncertain significance not provided 2022-03-14 no assertion criteria provided 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.