ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.687T>C (p.Thr229=)

gnomAD frequency: 0.00001  dbSNP: rs770390440
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392597 SCV000444196 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310300 SCV000444197 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346326 SCV000444198 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404406 SCV000444199 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306274 SCV000444200 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360962 SCV000444201 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266389 SCV000444202 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003539876 SCV000760348 benign not provided 2024-08-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841269 SCV001354769 likely benign Cardiac arrhythmia 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365412 SCV002665646 likely benign Cardiovascular phenotype 2017-04-03 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.
All of Us Research Program, National Institutes of Health RCV001841269 SCV004822880 likely benign Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing

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