ClinVar Miner

Submissions for variant NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) (rs67486287)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000127908 SCV000055222 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000127908 SCV000171494 benign not specified 2013-07-22 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 RCV000860328 SCV001000348 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030435 SCV000053104 benign Cardiac arrhythmia 2013-04-22 no assertion criteria provided clinical testing

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