ClinVar Miner

Submissions for variant NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)

gnomAD frequency: 0.00003  dbSNP: rs765669597
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714737 SCV000845465 pathogenic Brugada syndrome 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714738 SCV000845466 pathogenic Atrial fibrillation, familial, 10 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714739 SCV000845467 pathogenic Dilated cardiomyopathy 1E 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714740 SCV000845468 pathogenic Long QT syndrome 3 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV004527758 SCV000845469 pathogenic SCN5A-related disorder 2018-08-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841876 SCV001348090 likely benign Cardiac arrhythmia 2018-11-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486923 SCV004239687 uncertain significance Cardiomyopathy 2023-03-08 criteria provided, single submitter clinical testing

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