ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5451C>T (p.Ala1817=) (rs370114378)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253595 SCV000320391 likely benign Cardiovascular phenotype 2015-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000430845 SCV000518923 benign not specified 2015-12-03 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 RCV000227152 SCV000443907 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306654 SCV000443908 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363635 SCV000443909 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275996 SCV000443910 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314755 SCV000443911 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366966 SCV000443912 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274654 SCV000443913 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227152 SCV000291819 likely benign Brugada syndrome 2017-12-15 criteria provided, single submitter clinical testing

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