ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) (rs3750333)

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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 RCV000715498 SCV000846327 benign Seizures 2016-04-05 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
Genetic Services Laboratory, University of Chicago RCV000147637 SCV000195086 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310821 SCV000477519 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466000 SCV000562995 benign Early infantile epileptic encephalopathy 2017-08-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147637 SCV000306759 benign not specified criteria provided, single submitter clinical testing

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