ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) (rs121918799)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723551 SCV000111456 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000188915 SCV000242545 likely benign not specified 2017-09-07 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 RCV000188915 SCV000248793 uncertain significance not specified 2014-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296106 SCV000417785 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334848 SCV000417786 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415355 SCV000492946 uncertain significance Seizures; Generalized tonic-clonic seizures; Absence seizures 2014-11-13 criteria provided, single submitter clinical testing
Invitae RCV000723551 SCV000633848 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718099 SCV000848961 likely benign History of neurodevelopmental disorder 2017-07-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
UniProtKB/Swiss-Prot RCV000059493 SCV000091019 not provided Familial hemiplegic migraine type 3 no assertion provided not provided
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655982 SCV000588258 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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