ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5334G>A (p.Thr1778=) (rs41311121)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777808 SCV000913803 likely benign Arrhythmia 2018-06-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727199 SCV000343735 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000331755 SCV000515433 likely benign not specified 2017-08-03 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.
Invitae RCV000467502 SCV000557116 likely benign Brugada syndrome 2017-11-27 criteria provided, single submitter clinical testing

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