ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) (rs79569204)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719443 SCV000850310 benign Seizures 2016-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000147640 SCV000171854 benign not specified 2014-02-26 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.
Genetic Services Laboratory, University of Chicago RCV000147640 SCV000195089 likely benign not specified 2013-04-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358726 SCV000477520 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232730 SCV000286168 benign Early infantile epileptic encephalopathy 2017-11-19 criteria provided, single submitter clinical testing

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