ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) (rs762317674)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725944 SCV000340713 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000725944 SCV000589462 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the third homologous domain
Ambry Genetics RCV000718675 SCV000849539 likely benign History of neurodevelopmental disorder 2017-05-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000794768 SCV000934196 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-03 criteria provided, single submitter clinical testing

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