ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1044C>T (p.Pro348=) (rs370346797)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620031 SCV000736752 likely benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000713129 SCV000843700 benign not provided 2017-10-17 criteria provided, single submitter clinical testing
Color RCV000771362 SCV000903657 likely benign Arrhythmia 2018-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000151800 SCV000171550 benign not specified 2012-12-31 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 RCV000271915 SCV000444182 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326956 SCV000444183 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362958 SCV000444184 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268314 SCV000444185 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323306 SCV000444186 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378003 SCV000444187 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264561 SCV000444188 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000323306 SCV000557135 likely benign Brugada syndrome 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151800 SCV000200263 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro348Pro in exon 9 of SCN5A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/6830 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Pro348Pro in exon 9 of SCN5A (allele frequen cy = 1/6830) **

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