ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) (rs187731029)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725779 SCV000339326 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000725779 SCV000514516 likely benign not provided 2018-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717549 SCV000848402 likely benign History of neurodevelopmental disorder 2016-12-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000725779 SCV001008798 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725779 SCV001249551 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV001437588 SCV001640445 likely benign Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 2020-06-09 criteria provided, single submitter clinical testing

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