ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) (rs146878122)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724898 SCV000242564 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29948376)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724898 SCV000332268 uncertain significance not provided 2015-06-16 criteria provided, single submitter clinical testing
Invitae RCV000471568 SCV000548773 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-10-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000188933 SCV000596951 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717317 SCV000848167 likely benign History of neurodevelopmental disorder 2018-07-27 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Mendelics RCV000986884 SCV001136033 likely benign Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252612 SCV001428371 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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