ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) (rs200556220)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127985 SCV000171575 benign not specified 2014-03-29 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000127985 SCV000270827 likely benign not specified 2015-04-04 criteria provided, single submitter clinical testing p.Tyr17440Tyr in exon 25 of SCN5A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (25/8344) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac; dbSNP rs200556220).
Invitae RCV000457614 SCV000557106 benign Brugada syndrome 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000127985 SCV000605063 likely benign not specified 2016-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621006 SCV000736584 likely benign Cardiovascular phenotype 2016-05-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000771835 SCV000904548 benign Arrhythmia 2018-08-05 criteria provided, single submitter clinical testing

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