ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) (rs147084515)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000868109 SCV000242734 benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000189103 SCV000248818 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719930 SCV000850802 likely benign History of neurodevelopmental disorder 2018-06-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV001083577 SCV001009406 likely benign Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000868109 SCV001145463 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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