ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.801C>T (p.Ile267=) (rs45587735)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621415 SCV000735708 likely benign Cardiovascular phenotype 2017-02-09 criteria provided, single submitter clinical testing
Color RCV000777816 SCV000913811 likely benign Arrhythmia 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000418064 SCV000515713 likely benign not specified 2018-02-23 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 RCV000474542 SCV000557111 likely benign Brugada syndrome 2017-02-13 criteria provided, single submitter clinical testing

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