ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: 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 RCV000992884 SCV001145459 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514297 SCV001722106 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992884 SCV005433472 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing SCN2A: BP4, BP7, BS1

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