ClinVar Miner

Submissions for variant NM_018400.3(SCN3B):c.198C>T (p.Pro66=) (rs115752338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171067 SCV000223631 benign not specified 2014-06-18 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.
Invitae RCV000233030 SCV000290461 benign Brugada syndrome 7 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249174 SCV000318435 benign Cardiovascular phenotype 2017-02-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000384557 SCV000368400 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing

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