ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) (rs36031496)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715635 SCV000846465 benign History of neurodevelopmental disorder 2016-03-18 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
Athena Diagnostics Inc RCV000576354 SCV000677458 benign Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2017-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079576 SCV000111458 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000079576 SCV000171467 benign not specified 2012-06-12 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 RCV000079576 SCV000152606 benign not specified 2012-09-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384236 SCV000417781 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292163 SCV000417782 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030433 SCV000053102 benign Severe myoclonic epilepsy in infancy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Invitae RCV000468137 SCV000559695 benign Early infantile epileptic encephalopathy 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079576 SCV000307033 benign not specified criteria provided, single submitter clinical testing

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