ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) (rs368043574)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000992884 SCV000515396 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000427657 SCV000596958 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992884 SCV001145459 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV000992884 SCV001433717 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001514297 SCV001722106 benign Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 2020-05-21 criteria provided, single submitter clinical testing

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