ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) (rs150570058)

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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 RCV000176632 SCV000228320 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing
Invitae RCV000228454 SCV000286284 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000176632 SCV000615044 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717501 SCV000848354 likely benign History of neurodevelopmental disorder 2016-09-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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