ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) (rs143166100)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719781 SCV000850651 likely benign Seizures 2018-01-31 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 RCV000656025 SCV000588301 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601636 SCV000734648 likely benign Early infantile epileptic encephalopathy 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177733 SCV000229653 likely benign not specified 2015-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000177733 SCV000243103 likely benign not specified 2017-06-08 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 RCV000177733 SCV000249025 uncertain significance not specified 2015-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281049 SCV000477510 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547579 SCV000633778 likely benign Early infantile epileptic encephalopathy 2017-09-27 criteria provided, single submitter clinical testing

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