ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) (rs781529391)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000312127 SCV000444034 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366758 SCV000444035 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277105 SCV000444036 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313502 SCV000444037 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354222 SCV000444038 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259429 SCV000444039 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319399 SCV000444040 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000277105 SCV001011323 likely benign Brugada syndrome 2020-11-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV001178098 SCV001342440 likely benign Arrhythmia 2019-01-07 criteria provided, single submitter clinical testing

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