ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2788-6C>T (rs41260344)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776013 SCV000910555 benign Arrhythmia 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000041612 SCV000171564 benign not specified 2011-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000356790 SCV000444055 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261662 SCV000444056 likely benign Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302807 SCV000444057 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357571 SCV000444058 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267526 SCV000444059 likely benign Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322816 SCV000444060 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382108 SCV000444061 likely benign Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000357571 SCV000557134 benign Brugada syndrome 2017-08-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041612 SCV000065308 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.2788-6C>T in Intron 16 of SCN5A: This variant is not expected to have clinical significance because it has been identified in 5.1% (185/3632) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs41260344).
PreventionGenetics RCV000041612 SCV000306540 benign not specified criteria provided, single submitter clinical testing

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