ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs150401343
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Total submissions: 10
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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
Invitae 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

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