ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) (rs144787939)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000189431 SCV000195053 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000189431 SCV000243071 likely benign not specified 2017-11-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000357232 SCV000477480 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466688 SCV000562972 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717558 SCV000848411 likely benign Seizures 2018-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656021 SCV000588297 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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